PatientID: III:1

KindredID: 1

Case: M, 6Y0M, Chinese

DiseaseAssertion: VHL

FamilyInfo: Case III:1 (this patients mother) was a 32 year old female who complained of blurred vision for the past 2 years in her left eye. Fundus examinations showed several retinal hemangioblastomas in the temporal area of the left eye. They had previously undergone the operation for cerebellar hemangioblastoma 3 years prior. Case III:2 (this patient’s sister) was a 12 year old female who complained of a curtain coming across the vision in her left eye during the screening examination. Fundus examinations revealed a small hemangioblastoma in the infratemporal region of the peripheral retina in her right eye. A sizeable hemangioblastoma with 2.5 papilla diameters and prominant feeder vessels were detected in the inferior peripheral retina of her left eye. Case I:2 (this patient’s grandmother) had blindness in one eye and died of renal carcinoma, genetic testing was not preformed on this patient. Pedigree: see Figure 1.

CasePresentingHPOs: HP:0009711 (retinal capillary hemangioma)

CaseHPOFreeText: Fundus examination revealed a very small hemangioblastoma in the distant peripheral retina of his right eye, while his left eye was normal.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.W117R (c.349T>A)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: N/A

CAID: CA351753664 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.349T%3EA

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_transversion

CivicName: W117R (c.349T>A)

MultipleGeneVariants: N/A

PatientID: N/A

KindredID: 3

Case: F, 53Y0M, Italian

DiseaseAssertion: VHL

FamilyInfo: Sister was thought to be sporadic (non familial) in 2001 with a spinal T7 tumor - genetic testing in this paper describes her (the sister, case 3) without any mutations.

CasePresentingHPOs: HP:0006880 (cerebellar hemangioblastoma)

CaseHPOFreeText: The patient had a single cerebellar hemangioblastoma that was diagnosed at age 53. She had a germline point and 2 somatic point mutations found in the DNA of her CHB. These mutations are discussed further in PMID: 24335534

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: 24335534 (pt. HGB-25)

SupplementalData: Supplemental Digital Content 1. Primer Sequences for VHL gene amplification, LOH and methylation analysis.

Variant: p.E55Rfs*12 (c.163delG)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 428800 https://www.ncbi.nlm.nih.gov/clinvar/variation/428800/?new_evidence=false

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: minus_1_frameshift_variant

CivicName: P25L(c.74C>T) and D126Rfs*6(c.375_376insA) and E55Rfs(c.163delG)

MultipleGeneVariants: Somatic, VHL, c.375insA (p.Asp126Argfs), Germline, VHL, c.74C>T (p.Pro25Leu)

PatientID: None

KindredID: 10

Case: F, 9Y0M, Ethnicity unknown

DiseaseAssertion: pheochromocytoma

FamilyInfo: Familial/syndromic (FS) association

CasePresentingHPOs: HP:0002666 (Pheochromocytoma)

CaseHPOFreeText: Benign bilateral metachronous pheochromocytoma at age 6Y0M

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: SDHB,SDHC, SDHD, and exons 10, 11, 13, 14, 15 and 16 of RET proto-oncogene

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.R161Q (c.482G>A)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 182983 https://www.ncbi.nlm.nih.gov/clinvar/variation/182983/

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant;transition

CivicName: R161Q (c.482G>A)

MultipleGeneVariants: N/A

https://www.facebook.com/groups/4770669677posts/posts/10164413651119678/

The Haas Atlas (page 7) would identify the foundry mark as being a Hulse-Typen manufactured Pica face for Smith-Corona: https://archive.org/.../typewriter.../page/n5/mode/2up

Page 31 of the 1954 Smith-Corona Typewriter Type Styles and Keyboards Catalog would indicate it seems to match up solidly with the Pica Gothic No. 4 typeface: https://typecast.munk.org/.../1954-smith-corona-scm.../ Especially look at the Q, the J, and the 8. The '64 NOMDA guide Mark links is the same, but doesn't have as extensive a typesample.

Many machines, and especially the American manufactured ones, don't always have foundry marks which line up with the respective catalogs.

PatientID: None

KindredID: 1

Case: M, 2Y0M, Danish

DiseaseAssertion:Asymptomatic

FamilyInfo: The patient's father had the p.P2P VHL mutation as well as another VHL mutation (p.P81S) and presented with renal cell carcinoma. The patient's uncles had this p.P81S mutation but were both asymptomatic. The patient's paternal grandmother also had this mutation and had breast cancer. See Figure 1 for family pedigree.

CasePresentingHPOs: N/A

CaseHPOFreeText:N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.P2= (c.6C>G)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 456593 https://www.ncbi.nlm.nih.gov/clinvar/variation/456593/

CAID: N/A

gnomAD: 0.000 https://gnomad.broadinstitute.org/variant/3-10183537-C-G

VariantEvidence: N/A

MutationType: synonymous_variant

CivicName: P2= (c.6C>G)

MultipleGeneVariants: N/A

PatientID: HGB-25

KindredID: 6

Case: Sex Unknown, 61Y0M, Italian

DiseaseAssertion: VHL

FamilyInfo: Positive VHL family history.

CohortInfo: The patient cohort consisted of 57 patients (26 male and 31 female) from Southern Italy, most of whom (55 of 57) presented with solitary HGB of the CNS: 6 were syndromic and 51 were apparently sporadic.

CasePresentingHPOs: HP:0006880 (cerebellar hemangioblastoma)

CaseHPOFreeText: The patient had a single cerebellar hemangioblastoma that was diagnosed at age 53.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: 29941223

SupplementalData: N/A

Variant: p.E55Rfs*12 (c.163delG)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID:428800 https://www.ncbi.nlm.nih.gov/clinvar/variation/428800/?new_evidence=false

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType:minus_1_frameshift_variant

CivicName:CivicName:P25L(c.74C>T)andD126Rfs*6(c.375_376insA)andE55Rfs(c.163delG)

MultipleGeneVariants: Somatic, VHL, c.375insA (Asn131Ter) Germline, VHL, c.74C>T (p.Pro25Leu)

PatientID: 19 (Cousin)

KindredID: 1

Case: M, 14Y0M, Ethnicity Unknown

DiseaseAssertion: VHL

FamilyInfo: 9 members of this family were found to harbor the c.193T>G germline variant of the VHL gene. ID 35 was asymptomatic. IDs 28, 2, 6, 17 and 1 (proband) all presented with pheochromocytoma. ID 5 presented with CNS hemangioblastoma, retinal angioma and renal cyst OR tumor (not specified). ID 21 presented with retinal angioma and pheochromocytoma.

CasePresentingHPOs: HP:0002666 (Pheochromocytoma)

CaseHPOFreeText: The patient presented with a Pheochromocytoma at age 6.

CaseNotHPOs: HP:0009711; HP:0005584; HP:0001732; HP:0000077; HP:0010797 (Retinal capillary hemangioma, Renal cell carcinoma, Abnormality of the pancreas, Abnormality of the kidney, Hemangioblastoma)

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: Supplementary Table 1.

Variant: p.S65A (c.193T>G)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 223160, https://www.ncbi.nlm.nih.gov/clinvar/variation/223160/

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant;transversion

CivicName: S65A (c.193T>G)

MultipleGeneVariants: N/A

PatientID: None

KindredID: 1

Case: M, 31Y0M, Danish

DiseaseAssertion: VHL

FamilyInfo: The patient's brother carried the mutation. The proband’s paternal uncle died from metastasizing RCC at 46 years of age, and the proband’s father died from urosepsis in relation to bladder cancer in situ at the age of 56. Neither of these men were able to undergo genetic testing. The patient's mother was found to carry the mutation and had breast cancer. The maternal grandmother as well as a half brother were found to harbour the mutation but were asymptomatic. The proband's child was found to have a different VHL mutation (p.P2P). See Figure 1 for family pedigree.

CasePresentingHPOs: HP:0005584 (renal cell carcinoma)

CaseHPOFreeText: The patient presented with renal cell carcinoma at age 29.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.P2= (c.6C>G)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 456593 https://www.ncbi.nlm.nih.gov/clinvar/variation/456593/

CAID: N/A

gnomAD: 0.000 https://gnomad.broadinstitute.org/variant/3-10183537-C-G

VariantEvidence: N/A

MutationType: synonymous_variant

CivicName: P2=(c.6C>G) and P81S(c.241C>T)

MultipleGeneVariants: Germline, VHL, c.241C>T (p.Pro81Ser)

PatientID: N/A

KindredID: 3

Case: F, 53Y0M, Italian

DiseaseAssertion: VHL

FamilyInfo: Sister was thought to be sporadic (non familial) in 2001 with a spinal T7 tumor - genetic testing in this paper describes her (the sister, case 3) without any mutations.

CasePresentingHPOs: HP:0006880 (cerebellar hemangioblastoma)

CaseHPOFreeText: The patient had a single cerebellar hemangioblastoma that was diagnosed at age 53. She had a germline point and 2 somatic point mutations found in the DNA of her CHB. These mutations are discussed further in PMID: 24335534

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: 24335534 (pt. HGB-25)

SupplementalData: Supplemental Digital Content 1. Primer Sequences for VHL gene amplification, LOH and methylation analysis.

Variant: p.D126Rfs*6 (c.375_376insA)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: N/A

CAID: CA2573320316 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA2573320316

gnomAD: N/A

VariantEvidence: N/A

MutationType: plus_1_frameshift_variant

CivicName: P25L(c.74C>T) and D126Rfs*6(c.375_376insA) and E55Rfs(c.163delG)

MultipleGeneVariants: Somatic, VHL, c.163delG (p.Glu55Argfs), Germline, VHL, c.74C>T (p.Pro25Leu)

PatientID: None

KindredID: 1

Case: F, 6Y0M, Ethnicity Unknown

DiseaseAssertion: VHL

FamilyInfo: Family history revealed VHL in the father and grandfather. Molecular genetic analysis confirmed familial VHL by detecting a mutation of the VHL gene in the patient, her father, and her sister. Magnetic resonance imaging revealed spinal hemangioblastomas and kidney cysts in the father, but not in the patient.

CasePresentingHPOs: HP:0009711 (retinal capillary hemangioma)

CaseHPOFreeText: The patient had symptomatic juxtapapillary capillary retinal angioma with associated epiretinal membrane (ERM). Pars Plana Vitrectomy and removal of ERM resulted in substantial improvement of vision.

CaseNotHPOs: HP:0009713, HP:0000107( Spinal Hemangioblastoma, Renal Cyst)

CaseNotHPOFreeText: Magnetic resonance imaging revealed spinal hemangioblastomas and kidney cysts in the father, but not in the patient.

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.S65W (c.194C>G)

LegacyVariant: (407C>G)

CaseProblemVariantFreeText: N/A

ClinVar: 43597 https://www.ncbi.nlm.nih.gov/clinvar/variation/43597/

CAID: CA020099 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA020099

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant;transversion

CivicName: S65W (c.194C>G)

MultipleGeneVariants: N/A

PatientID: 1

KindredID: 1

Case: F, 6Y0M, Ethnicity Unknown

DiseaseAssertion: pheochromocytoma

FamilyInfo: No history - the only noteworthy point in her medical history being her conception through in vitro fertilization, however no noted concerns. This mutation was not present in either parent, indicating a de novo.

CasePresentingHPOs: HP:0002666 (pheochromocytoma)

CaseHPOFreeText: patient presented with a prolonged history of general malaise, headaches and abdominal pain. She was noted to have malignant hypertension. Subsequent imaging of the abdomen demonstrated a left adrenal mass (diagnosis of phaeochromocytoma confirmed by serial raised urinary metanephrines). Sympathetic blockade was established prior to definitive surgical treatment, resulting in complete resolution of the patient’s symptoms and hypertension.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.N90H (c.268A>C)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: N/A

CAID: CA351750708 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.268A%3EC

gnomAD: N/A

VariantEvidence: Neurofibromatosis type (NF) 1 was excluded on clinical grounds as she had none of the cutaneous features. Mutational analysis of the RET proto-oncogene was normal, making MEN2 unlikely. Sequencing of exons 1–3 of the VHL gene revealed a novel single base pair substitution (A268C).

MutationType: missense_variant;transversion

CivicName: N90H (c.268A>C)

MultipleGeneVariants: N/A

https://www.deluxe.com/shopdeluxe/pd/straight-tab-card-file-pocket-4-1-2-x-6-1-8-buff/_/A-1643<br /> Straight Tab Card File Pocket, 4 1/2 x 6 1/8, Buff

https://www.bcwsupplies.com/postcard-box-dividers

1/2 cut tabbed dividers for 4 x 6" cards

https://www.shopbrodart.com/Archival-Microform-Storage-Sale/_/Microfiche-Divider-Guides/?=

Microfiche Full Cut Divider Guides which might be used in a zettelkasten practice as mini folders or pouches for 4x6" index cards

Case Annotation Template

Case#: Patient 2, female, age 62

DiseaseAssertion: STGD

FamilyInfo: diagnosis of autosomal recessive STGD based on the pedigree and clinical phenotype of fleck deposits with or without genetic testing

CasePresentingHPOs: HP:0000608, HP:0000007, HP:0030610, HP:0030500

CaseHPOFreeText: Macular degeneration. autosomal recessive, Photoreceptor outer segment loss on macular OCT, Yellow/white lesions of the macula

CaseNotHPOs: n/a

CaseNotHPOFreeText: n/a

Genotyping Method: n/a

PreviouslyPublished: n/a

Variant: ENST00000370225.4:c.1222C>T

ClinVar: NM_000350.3(ABCA4):c.1222C>T (p.Arg408Ter)

CAID: CA179692

SupplementalData: composite mask analysis shown in figure 3 for patient 2, "Both patient 2 and 14 show foveal preservation of IS/OS and RPE," "Patients 2, 19, and 11 show large areas of matched degeneration and isolated IS/OS loss, "

Case#: Patient 10, female, age 19

DiseaseAssertion: STGD

FamilyInfo: diagnosis of autosomal recessive STGD based on the pedigree and clinical phenotype of fleck deposits with or without genetic testing

CasePresentingHPOs: HP:0000608, HP:0000007, HP:0030610, HP:0030500

CaseHPOFreeText: Macular degeneration. autosomal recessive, Photoreceptor outer segment loss on macular OCT, Yellow/white lesions of the macula

CaseNotHPOs: n/a

CaseNotHPOFreeText: n/a

Genotyping Method: n/a

PreviouslyPublished: n/a

Variant: Allele 1: NM_000350.3:c.2588G>C Allele 2: NM_000350.3:c.1222C>T

ClinVar: Allele 1: NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) Allele 2: NM_000350.3(ABCA4):c.1222C>T (p.Arg408Ter)

CAID: Allele 1: CA119128 Allele 2: CA179692

SupplementalData: composite mask analysis shown in figure 3 for patient 10

Case#: Patient 11, male, age 53

DiseaseAssertion: STGD

FamilyInfo: diagnosis of autosomal recessive STGD based on the pedigree and clinical phenotype of fleck deposits with or without genetic testing

CasePresentingHPOs: HP:0000608, HP:0000007, HP:0030610, HP:0030500

CaseHPOFreeText: Macular degeneration. autosomal recessive, Photoreceptor outer segment loss on macular OCT, Yellow/white lesions of the macula

CaseNotHPOs: n/a

CaseNotHPOFreeText: n/a

Genotyping Method: n/a

PreviouslyPublished: n/a

Variant: NM_000350.3:c.5461-10T>C

ClinVar: NM_000350.3(ABCA4):c.5461-10T>C

CAID: CA220687

SupplementalData: composite mask analysis shown in figure 3 for patient 11, show large areas of matched degeneration and isolated IS/OS loss

Case#: Patient 14, female, age 42

DiseaseAssertion: STGD

FamilyInfo: diagnosis of autosomal recessive STGD based on the pedigree and clinical phenotype of fleck deposits with or without genetic testing

CasePresentingHPOs: HP:0000608, HP:0000007, HP:0030610, HP:0030500

CaseHPOFreeText: Macular degeneration. autosomal recessive, Photoreceptor outer segment loss on macular OCT, Yellow/white lesions of the macula

CaseNotHPOs: n/a

CaseNotHPOFreeText: n/a

Genotyping Method: n/a

PreviouslyPublished: n/a

Variant: Allele 1: NM_000350.3:c.4222T>C Allele 2: NM_000350.3:c.4918C>T

ClinVar:Allele 1: NM_000350.3(ABCA4):c.4222T>C (p.Trp1408Arg) Allele 2: NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp)

CAID:Allele 1: CA227166 Allele 2: CA227253

SupplementalData: composite mask analysis shown in figure 3 for patient 14, show diffusely intact IS/OS and RPE with central area of mixed types of degeneration. Both patient 2 and 14 show foveal preservation of IS/OS and RPE

Case#: Patient 19, female, age 16

DiseaseAssertion: STGD

FamilyInfo: diagnosis of autosomal recessive STGD based on the pedigree and clinical phenotype of fleck deposits with or without genetic testing

CasePresentingHPOs: HP:0000608, HP:0000007, HP:0030610, HP:0030500

CaseHPOFreeText: Macular degeneration. autosomal recessive, Photoreceptor outer segment loss on macular OCT, Yellow/white lesions of the macula

CaseNotHPOs: n/a

CaseNotHPOFreeText: n/a

Genotyping Method: n/a

PreviouslyPublished: n/a

Variant: Allele 1: NM_000350.3:c.5714+5G>A Allele 2: NM_000350.3:c.4469G>A

ClinVar: Allele 1: NM_000350.3(ABCA4):c.5714+5G>A Allele 2: NM_000350.3(ABCA4):c.4469G>A (p.Cys1490Tyr)

CAID: Allele 1: CA227338 Allele 2: CA227198

SupplementalData: composite mask analysis shown in figure 3 for patient 19, show large areas of matched degeneration and isolated IS/OS loss

Case #: Male, 60 years old

DiseaseAssertion: He was diagnosed with late-onset Stargardts disease.

FamilyInfo: Has a family history with his father possibly having macular degeneration.

CasePresentingHPOs: HP:0007401, HP:0025010, HP:0012045 (sub-retinal/yellow), HP:0030602

CaseHPOFreeText: Proband presents with blurry vision (right eye) from over the past two years, with the right eye having 20/40 vision, while the left was 20/20. In addition to this, through dilation scattered subretinal yellow flecks and macular atrophy bilaterally, were revealed. The flecks were hyperautofluorescent. Obscuration of background choroidal fluorescence and window defects were also found. As well as foveal atrophy and hyperreflective deposits (RPE).

CaseNotHPOs: None found

CaseNotHPOFreeText: No abnormalities in the anterior segment examination. Through a full-field electroretinogram, normal rod and cone responses were found.

Genotyping Method: The genotyping was done through the use of target enrichment and next-generation sequencing.

PreviouslyPublished: N/a

Variant: 1) NM_000350.3(ABCA4):c.5461-10T>C 2) NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile)

ClinVar: 1) 92870 2) 99390

CAID: N/a

gnomAD: 1) Highest minor allele frequency was 0.00031 (https://www.ncbi.nlm.nih.gov/clinvar/variation/92870/) 2) Highest minor allele frequency was 0.05787 (https://www.ncbi.nlm.nih.gov/clinvar/variation/99390/)

SupplementalData: I was able to find a variant (NM_000350.3(ABCA4):c.[5461-10T>C;5603A>T]) that addresses both of the variants. Also, Fig.1 shows the phenotype of the proband through tests.

History of the Shavian Keyboard Imperial Good Companion Portable Typewriter<br /> by [[Robert Messenger]] of oz.Typewriter accessed on 2026-09-24T10:20:26

https://collection.powerhouse.com.au/object/254367

Typewriter- 'Imperial- good companion' which types in the Shavian alphabet

Case#: Female, age 44 years old

DiseaseAssertion: Discordant STGD phenotype

FamilyInfo: Information revolving the sister of this patient is given as well as they both have a discordant STGD phenotype. Additionally, it mentions that the parents each harboured a mutation but were asymptomatic/had normal examination results.

CasePresentingHPOs: HP:0001141, HP:0007401, HP:0030602

CaseHPOFreeText: At 23 central vision was deteriorating and patient had a VA of 6/36 in the right eye and 6/60 in the left. Through fundus photography, bilateral yellow/white flecks were found at the posterior pole. 12 years later, her VA was retested and it was 6/60 in both eyes. After autofluorescnece (AF) imaging was done, there was localized low signal at the macula found with abnromal foci. In 2008 her macular atrophy had enlarged and the flecks were less apparent.

CaseNotHPOs: N/a

CaseNotHPOFreeText: In this article there was not a phenotype presented that was normal.

CasePreviousTesting: It mentioned that there were two previously reported variants on the same allele detected in the siblings and one unique novel variant on the second allele for this patient. However, the testing they used was not listed, it just stated that the variants were found through sequencing. For this patient the variants were p.L541P/p.A1038V and p.R881C.

GenotypingMethod: Just mentioned sequencing and ABCA4 screening to look for two variants p.L541V and p.A1038V and a third novel variant p.R881C.

PreviouslyPublished: N/a

Variant: 1) NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) 2) NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) 3) N/a

ClinVar ID: 1) 99067 2) 7894 3) N/a

**CAID: ** 3) Because there was not a reference or alternate allele provided in this article I was unable to find a CAID for p.R881C.

gnomAD: 1) Highest minor allele frequency was 0.00017 (https://www.ncbi.nlm.nih.gov/clinvar/variation/99067/) 2) Highest minor allele frequency was 0.00188 (https://www.ncbi.nlm.nih.gov/clinvar/variation/7894/) 3) N/a

SupplementalData: Figure 1 had information regarding imaging and other testing done on the patient that is vital for phenotypic characterization. Also, it mentions a variant known as p.R881C, but was unable to find anything on ClinVar or gnomAD.

Biểu đồ tròn (Pie Chart) Khái niệm: Biểu đồ dạng hình tròn được chia thành các lát cắt (slice), mỗi lát đại diện cho một tỷ lệ phần trăm.

Cách sử dụng: Dán nhãn rõ ràng từng lát cắt. Giữ màu sắc nhất quán.

Sử dụng khi nào:

Khi muốn thể hiện tỷ trọng/tỷ lệ đóng góp của từng danh mục vào tổng thể.

Chỉ dùng khi có ít hơn 6 đến 7 danh mục (không dùng cho tập dữ liệu lớn).

Biểu diễn điều gì: Biểu diễn tỷ trọng/thành phần (Proportion / Part-to-whole relationship) của một tổng thể.

https://www.reddit.com/r/typewriters/comments/1uo95me/what_is_the_most_functional_mechanical_typewriter/

Someone has used a spatula and spring feedback from the Hermes Ambassador's space bar to effectuate a power space functionality. https://www.reddit.com/media?url=https://v.redd.it/4js8jq2snhbh1/HLSPlaylist.m3u8

Of interest, the power space on most of the Smith-Corona machines works exactly like this internally—they've just hidden the rectangular rubber "spatula" inside the right rear of the machine.

https://archive.org/details/RemingonLargeType

"You’ve probably heard that one quality found in good writing is voice. Voice refers to elements of the author’s tone, phrasing, and style that are recognizably unique to her or him. Having a distinctive, persuasive voice is crucial to engaging your audience — without it, your paper risks falling flat, no matter how much research you’ve compiled or how well you’ve followed other directions."

An example of two distictive authors with their own unique style in writing could be Dante Alighieri's writing vs Shakespeare. Both have a sense of formal, poetic style but you can still differentiate their writing because of their use of phrasing.

✉️【令人震惊的数字】分析 100 万条对话后发现：6% 的用户在向 AI 寻求人生建议——数以百万计的人在向 Claude 咨询要不要换工作、如何挽回感情、是否该离婚。AI 已经悄悄成为全球规模最大的「非正式心理咨询师」，而这个角色的承担者并未经过任何资质认证或监管。

DOI: 10.1242/dev.205047

Resource: RRID:ZFIN_ZDB-GENO-180925-6

Curator: @nmaralla

SciCrunch record: RRID:ZFIN_ZDB-GENO-180925-6

What is this?

endovascular stenting emerging as first-line therapy for rapid symptom relief, while definitive treatment targets the underlying cause

Venoactive drugs (diosmin, hesperidin, horse chestnut seed extract) may be considered as adjuncts to compression for symptomatic relief in countries where available

Earlier intervention is reasonable when high-risk features are present, including rapid growth (≥0.5 cm/year), symptomatic aneurysm, saccular morphology, or penetrating atherosclerotic ulcers

Vintage Sears Celebrity Portable Typewriter Manual With Hard Case & Instructions<br /> by [[ShopGoodwill.com]]<br /> accessed on 2026-03-13T10:33:18

2026-03-12: 9 bids total with last minute bidding going from $82 (5 bids) to $128 with 4 additional bids for a Sears Celebrity typewriter with an obvious (photo of typebasket) double gothic typeface.

https://www.reddit.com/r/BaseballScorecards/comments/1mt1cuz/typewriter_experiment_4_the_index_card_multiple/

joe_skidiachi_irl experiment for baseball scorecards with typewriters.

DOI: 10.1242/dev.204359

Resource: None

Curator: @evieth

SciCrunch record: RRID:ZFIN_ZDB-ALT-060821-6

What is this?

https://www.facebook.com/mr.mrs.vintage/posts/pfbid0NZJByje94LNPJ795Jz4thaRzeFrTtQpiJJQ263DmZb3djGcYRmCPGRCtJHpYXNRol

https://www.facebook.com/groups/4770669677posts/posts/10160666983979678/

Episode 1296 - The Mister Rogers' Neighborhood Archive<br /> by [[Mister Rogers' Neighborhood]]<br /> Airdate: April 9, 1973<br /> accessed on 2026-02-02T14:06:32

Mister Rogers and Mr. McFeely demonstrate how a large typeface typewriter (6 or perhaps 4 CPI) works for typing out speeches.

Archived version of the episode at https://misterrogers.org/episodes/mister-rogers-shows-how-a-teleprompter-typewriter-types-large-letters/

for - future human - Michael Levin - the 6 million dollar man!

https://www.printables.com/model/753729-typewriter-carriage-release-lever-smith-corona-ele

for - comparison - hunter gatherer vs agricultural - energetically contained vs energetically expansionary - stats - hunter -gatherer humans - population before agriculture - 6 to 10 million people.

for - 6 degrees of separation - interbrain - missed this one in Fellowship group, but found it anyways! - adjacency - Nick - Interbrain

https://www.reddit.com/r/typewriters/comments/1oi6808/space_runs_too_fast_with_loud_buzzing_sound_plz/ reply via u/ahelper

premise 6: economic incentive

claim: ai will cut cost tremendously (wont have to pay the actor, be able to produce faster, no breaks would be needed, ect.)

This premise supports the conclusion that ai will replace humans because its cheaper, not because the quality of the art is better.

reply to u/EdmundDante718 at https://reddit.com/r/typewriters/comments/1o5x527/missing_carriage_releases_on_scm/

It's incredibly common for these 6 series Smith-Coronas to have broken plastic carriage release levers (a major design flaw). You can call around to shops with parts machines for original replacements. https://site.xavier.edu/polt/typewriters/tw-repair.html

There are numerous YouTube repair videos and ideas including these few I've bookmarked before, though there are surely others: - https://www.youtube.com/watch?v=zNcQvfUk23s - https://www.youtube.com/watch?v=Gb9VlrKcXcM

I've not seen anyone 3-D print a version (yet), but designs for one might be floating around out there.

I've also seen people jury rig all sorts of plastic replacements which is an option as well.

In practice, you generally only need one working one for your dominant hand.

https://typecast.munk.org/2011/04/23/1964-nomda-blue-book-olympia-font-styles/

The following were the available Olympia type sizes as listed in the 1964 NOMDA Blue Book:

• 10 pitch (2.6 m/m) pica
• 11 pitch (2.3 m/m) elite
• 12 pitch (2.1 m/m) elite
• 17 pitch (1.5 m/m, calculated)

Not in the NOMDA Blue Book, but found in the wild on a 1971 Olympia SG-3: - 6 pitch (4.2 m/m) with typeface: Basic Writing No. 67

DOI: 10.1016/j.devcel.2025.07.011

Resource: (ZFIN Cat# ZDB-ALT-051223-6,RRID:ZFIN_ZDB-ALT-051223-6)

Curator: @areedewitt04

SciCrunch record: RRID:ZFIN_ZDB-ALT-051223-6

What is this?

Against Your Skin * In the wilderness of Africa, Lady Penelope and my baby self bond together while Brains, Alan and Tin Tin play in the distance, and later when everyone goes to the lake to bathe, Lady Penelope and I join them for a nice, long, natural bath.

6 pitch would be 4.2 m/m

http://brianrytel.com/envie-transatlantique/

DOI: 10.1016/j.devcel.2025.06.015

Resource: None

Curator: @areedewitt04

SciCrunch record: RRID:ZFIN_ZDB-ALT-110818-6

What is this?

DOI: 10.1016/j.devcel.2025.06.015

Resource: (ZFIN Cat# ZDB-ALT-051223-6,RRID:ZFIN_ZDB-ALT-051223-6)

Curator: @areedewitt04

SciCrunch record: RRID:ZFIN_ZDB-ALT-051223-6

What is this?

https://clockhistory.com/westclox/products/ben/index.html

Smith Corona Typewriter Keyboard Cork, Out of Place, Repair, Controls Key Top Height by [[Phoenix Typewriter]]

DOI: 10.1038/s41592-025-02702-6

Resource: RRID:Addgene_72833

Curator: @dhovakimyan1

SciCrunch record: RRID:Addgene_72833

What is this?

DOI: 10.7554/eLife.105802

Resource: RRID:ZFIN_ZDB-GENO-180925-6

Curator: @scibot

SciCrunch record: RRID:ZFIN_ZDB-GENO-180925-6

What is this?

DOI: 10.1038/s42003-025-08108-6

Resource: (NCI-DTP Cat# NCI-H1299, RRID:CVCL_0060)

Curator: @dhovakimyan1

SciCrunch record: RRID:CVCL_0060

What is this?

SCM Electric Typewriters by [[Joe Van Cleave]]

Tips for cleaning the Smith-Corona 6 series electric typewriters and details about how they work.

S-C also made this series of typewriter for both Sears and Singer under their branding. (including the Singer Electric in this video.)

The belts on the electric motor and cams was originally a rubber 'V' belt which is no longer manufactured. Using 1/8" round cross-section o-rings of appropriate sizes (for water cannister applications) is the recommended replacement, however one may need to slightly move the drive motor down a bit so that the belt doesn't hit the frame of the typewriter and thereby destroying it over time.

Cleaning and lubricating the drive motors and moving pieces before using may help before trying out a typewriter which has been sitting for long periods of time.

Some later models had an electric return, which can tend to be violent. Electro 220 and Coronet Automatic 12 have an additional clutch and draw band (and lack of return lever on the carriage) for their electric returns.

for - source - Donna Nelham - @Fellowship of the Commons Telegram group zoom meeting - 2025, May 6 - article - Linkedin - Bayo Akomolafe - I am against "worldview" - to - article - Substack Annik De Witt - Toxic Polarization is killing us. A new worldview can save us - https://hyp.is/OChhXCvdEfC0MEOwIi_joA/annickdewitt.substack.com/p/toxic-polarization-is-killing-us

for - anthropocene - 6 points

DOI: 10.1038/s41467-025-58821-3

Resource: (ZFIN Cat# ZDB-ALT-120523-6,RRID:ZFIN_ZDB-ALT-120523-6)

Curator: @scibot

SciCrunch record: RRID:ZFIN_ZDB-ALT-120523-6

What is this?

DOI: 10.1038/s41467-025-58791-6

Resource: (IMSR Cat# JAX_016962,RRID:IMSR_JAX:016962)

Curator: @dhovakimyan1

SciCrunch record: RRID:IMSR_JAX:016962

What is this?

DOI: 10.1038/s41556-025-01653-6

Resource: RRID:Addgene_118760

Curator: @dhovakimyan1

SciCrunch record: RRID:Addgene_118760

What is this?

DOI: 10.1186/s12977-025-00661-6

Resource: (ATCC Cat# CRL-8031, RRID:CVCL_0374)

Curator: @dhovakimyan1

SciCrunch record: RRID:CVCL_0374

What is this?

https://www.reddit.com/r/typewriters/comments/1jhle1t/typewriter_in_videogame/

"Using geological maps and analysis... investigators can link soil samples back to potential locations"

2 possible justifications in EG law: 1. appealing to the fact that use of firearms is permittable if used against a serious crime (defined as carried out with dangerous means; court later found that ladders that were used to climb the Berlin Wall were considered 'dangerous means', thus use of firearms was necessary) 2. explicit statement that soldier who follow orders are not criminally responsible (unless a blatant violation)

DOI: 10.1038/s42255-024-01194-6

Resource: RRID:Addgene_27056

Curator: @olekpark

SciCrunch record: RRID:Addgene_27056

What is this?

DOI: 10.1038/s41467-025-56888-6

Resource: RRID:Addgene_47070

Curator: @olekpark

SciCrunch record: RRID:Addgene_47070

What is this?

DOI: 10.1038/s41467-025-56591-6

Resource: RRID:Addgene_60360

Curator: @olekpark

SciCrunch record: RRID:Addgene_60360

What is this?

DOI: 10.1038/s41467-025-56343-6

Resource: None

Curator: @olekpark

SciCrunch record: RRID:Addgene_150814

What is this?

DOI: 10.1038/s41419-025-07332-6

Resource: RRID:Addgene_26603

Curator: @olekpark

SciCrunch record: RRID:Addgene_26603

What is this?

DOI: 10.1038/s41398-024-03201-6

Resource: RRID:Addgene_8453

Curator: @olekpark

SciCrunch record: RRID:Addgene_8453

What is this?

Thou know’st that this cannot be said A sin, nor shame, nor loss of maidenhead,

I think the speaker attempts to take away from society, saying that what this is is different. In other words, the speak attempts to downplay the act of being physically intimate with the other.

> for - stats - addiction - marijuana - average duration - 6 years

How can this be adapted? MUFG are looking to implement a 6-eyes workflow and they didn't find the documentation helpful. To be honest, we are not finding this too helpful either, given what we are trying to help the client out with.

for - book - Pedagogies of Collapse - Ginie Servant-Miklos - Chapter 6 - Learning, Loving, Living in Times of Collapse - 2024

Case: only patient, female,

Disease Assertion: UCD/OTCD

Family Info:

Case Presenting HPOs: HP:0011463 Childhood onset, hyperammonemia (HP:0001987), oroticaciduria (HP:0003218), low plasma citrulline (HP:0003572), vomiting (HP:0002013),

Case HPO FreeText : episodes of nausea, stomachache and temporary elevated trans- aminase

Case NOT HPOs:

Case NOT HPO Free Text: Sanger sequencing revealed no pathogenic mutation. real-time PCR was conducted on blood DNA from the patient and a male control subject using the Applied Biosystems 7300 real time PCR system (Thermo Fisher Scientific). Several primer pairs were designed for OTC (upstream of exon 1 and intron 6) and RPP30 that was used as an autosomal single copy gene reference to generate amplicons suitable for real-time PCR

Test results plasma ammonia: 220 μg/dl (ref 12~ 60 μg/dl) plasma glutamine:1212 nmol/ml (ref 420–700) plasma citrulline: 18.4 nmol/ml (ref 17–43), urinary orotate: 234.3 μmol/g Cr (ref 4.7 ~ 15.9 μmol/g creatinine) Arg: 32.2 nmol/ml (ref 54–130).

Case Previous Testing:

Supplemental Data: Genetic analysis section,

Notes: No variant mutation detected but was found first documented case of OTCD caused by an exonic duplication (exons 1 to 6) of the OTC gene. Further analysis indicated that it resulted from complex rearrangements.

Treatment: protein-restricted diet and by oral sodium phenylbutyrate and arginine.

Variant: NM_000531.6:-

ClinVarID: -

CAID: -

gnomAD:

Gene Name: OTC (ornithine transcarbamylase)

for - key insight - leverage point of the 99% - our numbers - from Substack article - The Cosmo-Local Plan for our Next Civilization - Michel Bauwens - 2024, Dec 20 - key insight - 6 levels of individual / collective gestalt - from Substack article - The Cosmo-Local Plan for our Next Civilization - Michel Bauwens - 2024, Dec 20

key insight - 6 embedded levels of individual / collective gestalt, - first level is from individual quanta to collective atoms - second level is from individual atom to collective molecules - third is from individual molecule too collective living cells - fourth is from individual living cells too collective multicellular living organism - fifth is from individual multi-cellular organism to collective culture at local level - sixth is from individual local culture to to collective trans-national alliances - At each level except the first, a perspective shift occursc in which the collective is seen from a different lens as an individual

key insight - leverage point of the 99% - our numbers - The trans-national companies power is in their capital - The trans-national alliances leverage point is our large numbers of people - Through our strength in numbers, we can mobilize trans-alliance resources such as human innovation resources, which most local actors are lacking in

for - stats - birth - 490,000 babies born every day - 5 to 6 every second - Anna Veerwal - Doula - birth educator

Puntos de acción

Desarrollar protocolos claros que aseguren que las decisiones e intervenciones cumplan con los criterios de legitimidad, necesidad y proporcionalidad, a fin de garantizar la protección de los derechos y libertades de terceros cuando pueda haber conflictos de intereses entre las partes interesadas (lo que puede dar lugar a impactos desproporcionados en un grupo o grupos en comparación con otro grupo o grupos de personas).

Garantizar que existan marcos jurídicos suficientes (tanto nacionales como internacionales) para proteger y brindar reparación a las personas afectadas por la IA.

Permitir que las personas afectadas por sistemas de IA busquen soluciones sin temor a represalias.

Desarrollar estrategias para garantizar que el público en general sea consciente de los riesgos y oportunidades relacionados con la IA, y de los mecanismos disponibles para identificar cuándo el uso o la aplicación de la IA puede haber resultado en una violación de sus derechos.

for - climate crisis - Youtube - climate Doomsday 6 years from now - Jerry Kroth - to - climate clock - adjacency - Tipping Point Festival - Indyweb / SRG complexity mapping tool - Integration of many fragmented bottom-up initiatives - The Great Weaving - Cosmolocal organization - Michel Bauwens - Peer-to-Peer Foundation - A third option - Islands of Coherency - Otto Scharmer Presencing Institute - U-labs - Love-based (sacred-based) mini-assemblies interventions to address growing fascism, populism and polarization - Roger Hallam - Ending the US / China Cold War - Yanis Varoufakis

YouTube details - title: climate Doomsday 6 years from now - author: Jerry Kroth, pyschologist

summary - Psychologist Jerry Kroth makes a claim that the 1.5 Deg C and 2.0 Deg C thresholds will be reached sooner than expected - due to acceleration of climate change impacts. - He backs up his argument with papers and recent talks of climate thought leaders using their youtube presentations. - This presentation succinctly summarized a lot of the climate news I've been following recently. - It reminded me of the urgency of climate change, my work trying to find a way to integrate the work of the Climate Clock project into other projects. - This work was still incomplete but now I have incentive to complete it.

adjacency - between - Tipping Point Festival - Indyweb / SRG complexity mapping tool - Integration of many fragmented bottom-up initiatives - The Great Weaving - Cosmolocal organization - Michel Bauwens - Peer-to-Peer Foundation - Islands of Coherency - Otto Scharmer - Presencing Institute - U-labs - Love-based (sacred-based) mini-assemblies interventions to address growing fascism, populism and polarization - Roger Hallam - Ending the US / China Cold War - Yanis Varoufakis - and many others - adjacency relationship - I have been holding many fragmented projects in my mind and they are all orbiting around the Tipping Point Festival for the past decade. - When Indyweb Alpha is done, - especially with the new Wikinizer update - We can collectively weave all these ideas together into one coherent whole using Stop Reset Go complexity mapping as a plexmarked Mark-In notation - Then apply cascading social tipping point theory to invite each project to a form a global coherent, bottom-up commons-based movement for rapid whole system change - Currently, there are a lot of jigsaw puzzle pieces to put together! - I think this video served as a reminder of the urgency emerged of our situation and it emerged adjacencies and associations between recent ideas I've been annotating, specifically: - Yanis Varoufakis - Need to end the US-led cold war with China due to US felt threat of losing their US dollar reserve currency status - that Trump wants to escalate to the next stage with major tariffs - MIchel Bauwens - Cosmolocal organization as an alternative to current governance systems - Roger Hallam - love-based strategy intervention for mitigating fascism, polarization and the climate crisis - Otto Scharmer - Emerging a third option to democracy - small islands of coherency can unite nonlinearly to have a significant impact - Climate Clock - a visual means to show how much time we have left - It is noteworthy that: - Yanis Varoufakis and Roger Hallam are both articulating a higher Common Human Denominator - creating a drive to come together rather than separate - which requires looking past the differences and into the fundamental similarities that make us human - the Common Human Denominators (CHD) - In both of their respective articles, Yanis Varoufakis and Otto Scharmer both recognize the facade of the two party system - in the backend, it's only ruled by one party - the oligarchs, the party of the elites (see references below) - Once Indyweb is ready, and SRG complexity mapping and sense-making tool applied within Indyweb, we will already be curating all the most current information from all the fragmented projects together in one place regardless of whether any projects wants to use the Indyweb or not - The most current information from each project is already converged, associated and updated here - This makes it a valuable resource for them because it expands the reach of each and every project

to - climate clock - https://hyp.is/R_kJHKGQEe28r-doGn-djg/climateclock.world/ - love-based intervention to address fascism, populism and polarization - Roger Hallam - https://hyp.is/wUDpaKsAEe-DM9fteMUtzw/www.youtube.com/watch?v=AiKWCHAcS7E - ending the US / China cold war - Yanis Varoufakis - https://hyp.is/Yy0juqmrEe-ERhtaafWWHw/www.youtube.com/watch?v=8BsAa_94dao - Cosmolocal coordination of the commons as an alternative to current governance and a leverage point to unite fragmented communities - Michel Bauwens - https://hyp.is/AvtJYqitEe-f_EtI6TJRVg/4thgenerationcivilization.substack.com/p/a-global-history-of-societal-regulation - A third option for democracy - Uniting small islands of coherency in a time of chaos - Otto Scharmer - https://hyp.is/JlLzuKusEe-xkG-YfcRoyg/medium.com/presencing-institute-blog/an-emerging-third-option-reclaiming-democracy-from-dark-money-dark-tech-3886bcd0469b - One party system - oligarchs - Yanis Varoufakis - https://hyp.is/CVXzAKnWEe-PBBcP5GE8TA/www.youtube.com/watch?v=8BsAa_94dao - What's missing is a third option (in the two party system) - Otto Scharmer - https://hyp.is/M3S6VKuxEe-pG-Myu6VW1A/medium.com/presencing-institute-blog/an-emerging-third-option-reclaiming-democracy-from-dark-money-dark-tech-3886bcd0469b

for - quote - US politics - one party state - Yanis Varoufakis - observation - Trump was groomed by toxic US corporate culture and only now is the US is experiencing the blowback of that - new meme - hostile corporate takeover of the US government - from - Climate doomsday 6 years from now - Jerry Kroth

quote - US politics - one party state - Yanis Varoufakis - (see below) - The United States is not a democracy - It's an oligarchy with elections that are providing the legitimacy for this one part state to continue to exist

comment - With Trumps win and the nomination of a slate filled with many billionaires to lead major US departments, it's more obvious than ever that what Trump is doing is:

new meme - A hostile corporate takeover of the US government - We shouldn't be surprised as Trump was groomed by the out-of-control corptocracy in the United States - Remember that NBC made him famous with his show "The Apprentice" and during that time, he was celebrated by American corporate culture. Why else did his show reach top position in Nelson ratings? - Trump is the child of the toxic corporate culture of America where money is king, the metric that rules over everything - people and the environment - Trump is merely running the government the way he ran his companies (into the ground), with total control. - On the apprentice, he made famous the phrase "your fired" - We should not be surprised that he is making the US government in the image of himself that he has well publicized for decades.

from - Climate doomsday 6 years from now - Jerry Kroth - from - Youtube - Climate Doomsday 6 years from now - Jerry Kroth - https://hyp.is/OfL17KukEe-u2rfUpknrTg/www.youtube.com/watch?v=KZ0JDk1p6Zg

for - two party system - third viable option is missing - Otto Scharmer - from - Youtube - Climate Doomsday 6 years from now - Jerry Kroth

from - Youtube - Climate Doomsday 6 years from now - Jerry Kroth - https://hyp.is/OfL17KukEe-u2rfUpknrTg/www.youtube.com/watch?v=KZ0JDk1p6Zg

great idea!

from - Youtube - climate doomsday 6 years from now - https://hyp.is/OfL17KukEe-u2rfUpknrTg/www.youtube.com/watch?v=KZ0JDk1p6Zg

for - sensory substitution - after 6 month - signal on skin - sounds like there is an external source of sound - same thing happens with our ear - David Eagleman

for - article - Nature - We need to be ready for a new world’: scientists globally react to Trump election win - Nov 6, 2024