Hypothesis

3 Matching Annotations

Jul 2026
pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov

Recessive multiple epiphyseal dysplasia and Stargardt disease in two sisters

1
1. Vibhor 12 Jul 2026
  
  in exploring_annotations
  
  20 years Age of onset 3 years 9 years
  
  Case#: Younger sister,Female,Onset at 9 yo InheritancePattern: AutosomalRecessive Zygosity:Homozygosity SupplementalData: Comparison of Phenotypes (Table 1)\ CaseNotHPOs: n/a ExperimentalAssay:Autofluorescence ClinGen ABCA4 Annotations hgnc_imputed:na
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ExperimentalAssay:Autofluorescence

SupplementalData: Comparison of Phenotypes (Table 1)\

Case#: Younger sister,Female,Onset at 9 yo

CaseNotHPOs: n/a

Zygosity:Homozygosity

InheritancePattern: AutosomalRecessive

hgnc_imputed:na

ClinGen ABCA4 Annotations

Annotators

Vibhor

URL

pmc.ncbi.nlm.nih.gov/articles/PMC8123746/
Sep 2023
connect.apollo.roche.com connect.apollo.roche.com

E4ATI-933 Enspyrng Patients Exploration

1
1. schuldtr 13 Sep 2023
  
  in Public
  
  Months Enrollment Coverage 19 (12, 28) 24.3 (17.2, 29.4
  
  Hmm this seems strange. Can you explain how this was calculated?
  
  question table 1
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table 1

question

Annotators

schuldtr

URL

connect.apollo.roche.com/content/c8e0e096-7073-434f-93a6-46f319182989/E4ATI_933_Report-2023-09-13.html
Aug 2022
gist.github.com gist.github.com

Svelte vs. Next.js

1
1. TylerRick 17 Aug 2022
  
  in Public
  
  comparison comparison site comparison table svelte-kit Next.js React +1
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comparison

comparison table

Next.js

comparison site

svelte-kit

+1

React

Annotators

TylerRick

URL

gist.github.com/nberlette/c7ee7e1773fb55cf4ff1b713e748969e