triangular face
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000325
565 Matching Annotations
- Sep 2019
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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aggressivity
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000718
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no eye contact,
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000817
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social interaction
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0012760
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autistic
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000729
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yes
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001290
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severe
Monarch lookup result: https://monarchinitiative.org/phenotype/HP%3A0011344
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no speech
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001344
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122 cm (−2.7)
Monarch lookup result: https://monarchinitiative.org/phenotype/HP%3A0000002
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Facial dysmorphisms
Monarch lookup result: https://monarchinitiative.org/phenotype/HP%3A0000271
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sleeping difficulties
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002360
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Behavioral abnormalities
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000708
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developmental delay
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001263
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FBXO11
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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RNF13
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reader.elsevier.com reader.elsevier.com
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Hereditary protein C deficiency caused by compound heterozygousmutants in two independent Chinese families
PMID: 25393254
Gene: PROC
Disease: Thrombophilia due to protein C deficiency
MonDO: 0012860
InheritancePattern: Autosomal Recessive
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- Aug 2019
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clinicalgenome.org clinicalgenome.org
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Version 7
ClinGen Gene-Disease Validity Standard operating Procedures Version 7 was released on August 12, 2019.
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www.clinicalgenome.org www.clinicalgenome.org
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Standard Operating Procedures
To see Hypothes.is annotated notes on the SOP, click the hyperlink on the webpage titled "Gene-Disease Validity Standard Operating Procedures, Version 7"
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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NEB
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Lumbar gibbus
Monarch lookup result: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294674/#annotations:NNq7xL0dEemwJUvA1NrCBA
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disproportionate stature
Monarch lookup result: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294674/#annotations:NNq7xL0dEemwJUvA1NrCBA
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disproportionate stature
Monarch lookup result: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294674/#annotations:NNq7xL0dEemwJUvA1NrCBA
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disproportionate stature
Monarch lookup result: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294674/#annotations:NNq7xL0dEemwJUvA1NrCBA
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platyspondyly
Monarch lookup result: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294674/#annotations:NNq7xL0dEemwJUvA1NrCBA
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platyspondyly
Monarch lookup result: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294674/#annotations:NNq7xL0dEemwJUvA1NrCBA
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platyspondyly
Monarch lookup result: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294674/#annotations:NNq7xL0dEemwJUvA1NrCBA
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Lumbar gibbus
Monarch lookup result: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294674/#annotations:NNq7xL0dEemwJUvA1NrCBA
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disproportionate stature
Monarch lookup result: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294674/#annotations:NNq7xL0dEemwJUvA1NrCBA
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platyspondyly
Monarch lookup result: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294674/#annotations:NNq7xL0dEemwJUvA1NrCBA
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EXTL3
-
- May 2019
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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uterine leiomyomas
Monarch lookup result: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6276694/
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Monarch lookup result: https://monarchinitiative.org/disease/MONDO:0005635
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MED12
-
- Mar 2019
-
www.nature.com www.nature.com
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UBE2A
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UBE2A
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UBE2A
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UBE2A
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UBE2A
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- Feb 2019
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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UBE2A
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UBE2A
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Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome
PMID: 28132690
Gene: EXTL3
Disease: Neuro-immuno-skeletal Dysplasia Syndrome
MonDO: 0010668
Inheritance Pattern: autosomal-recessive (maybe, check me on this, found 1st paragraph of results, but was unclear)
Tags
Annotators
URL
-
- Dec 2018
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www.sciencedirect.com www.sciencedirect.com
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ClinVar variant ID lookup result https://www.ncbi.nlm.nih.gov/clinvar/variation/156152/
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Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000121
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Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001947
-
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0004912
-
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003355
-
Monarch lookup result: https://monarchinitiative.org/disease/MONDO:0009297
-
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000124
-
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001943
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Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0005949
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HNF4A
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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ClinVar variant ID lookup result https://www.ncbi.nlm.nih.gov/clinvar/variation/156152/
-
- Nov 2018
-
www.cell.com www.cell.com
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Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002448
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ClinVar variant ID lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/427942/
-
ClinVar variant ID lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/427941/
-
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0007375
-
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0012448
-
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0012448
-
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0012448
-
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002079
-
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0006532
-
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002104
-
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001250
-
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000648
-
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000252
-
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002191
-
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001007
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Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001999
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Mseqdr lookup result: https://mseqdr.org/hpo_browser.php?11968;
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Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003808
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Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0008936
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PLAA
-
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
ClinVar variant ID lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/427942/
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
ClinVar variant ID lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/427941/
-
- Aug 2018
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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EXTL3
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0008386
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Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000646
-
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000639
-
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000545
-
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001647
-
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002017
-
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002017
-
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003307
-
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002013
-
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002020
-
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0011968
-
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000154
-
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000463
-
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000368
-
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000337
-
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000739
-
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000739
-
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0010865
-
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0007018
-
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002136
-
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001290
-
Monarch lookup result: https://monarchinitiative.org/phenotype/HP%3A0001249
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Monarch lookup result: https://monarchinitiative.org/phenotype/MP:0009674
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PPM1D
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002023
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Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0008755
-
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0007371
-
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0007371
-
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002506
-
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001272
-
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0100704
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Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002533
-
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003808
-
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0008936
-
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000278
-
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000316
-
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000188
-
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000252
-
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002650
-
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001250
-
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000750
-
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0011342
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EMC1
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0004060
-
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003375
-
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000926
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EXTL3
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001943
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UBE2A
-
- Jul 2018
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
ClinVar variant ID lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/417794/
-
ClinVar variant ID lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/417796/
-
Mseqdr lookup result: https://mseqdr.org/hpo_browser.php?4060;
-
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003375
-
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000926
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EXTL3
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
ClinGen allele ID lookup result: https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_001440.3%3Ac.953C%3ET
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EXTL3
-
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0005306
-
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0005280
-
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000520
-
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000520
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EXTL3
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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LINC00520
-
- Jun 2018
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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psychomotor development
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001263
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UBE2A
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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chronic otitis media,
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000389
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chronic sinusitis
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0011109
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PIH1D3
-
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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PIH1D3
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
delayed motor development
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002194
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hyperbilirubinemia
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002904
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EXTL3
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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heart murmur
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0030148
-
cyanosis
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000961
-
pulmonary venous return
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0010772
-
truncus arteriosus
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001660
-
TMEM260
-
-
bmcmedgenet.biomedcentral.com bmcmedgenet.biomedcentral.com
-
arrhythmia
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0011675
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CACNA1C
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Synophris
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000664
-
UBE2A
-
-
ojrd.biomedcentral.com ojrd.biomedcentral.com
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
jem.rupress.org jem.rupress.org
-
KLHL4
Monarch lookup result: https://www.sciencedirect.com/science/article/pii/S0888754300964784?via%3Dihub
-
KLHL4
Monarch lookup result: https://www.sciencedirect.com/science/article/pii/S0888754300964784?via%3Dihub
-
EXTL3
-
- Jul 2017
-
academic.oup.com academic.oup.com
-
Autosomal recessive dilated cardiomyopathy https://www.omim.org/entry/604903
-
-
www.sciencedirect.com www.sciencedirect.com
-
Variants in MCAD gene found in Japanese patients
-