Hypothesis

1 Matching Annotations

Sep 2026
pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov

Recessive multiple epiphyseal dysplasia and Stargardt disease in two sisters

1
1. Vibhor 29 Sep 2026
  
  in read_only_demo_group
  
  Recessive multiple epiphyseal dysplasia and Stargardt disease in two sisters
  
  PMID: 33724725 Gene: ABCA4 Gene: SLC26A2 Disease: epiphyseal dysplasia Disease: stargardt syndrome inferred_gene_hgnc:34 inferred_gene_source:Gene_Name ClinGen ABCA4 Annotations
Visit annotations in context

Tags

Gene: SLC26A2

Disease: stargardt syndrome

inferred_gene_source:Gene_Name

ClinGen ABCA4 Annotations

Disease: epiphyseal dysplasia

PMID: 33724725

inferred_gene_hgnc:34

Gene: ABCA4

Annotators

Vibhor

URL

pmc.ncbi.nlm.nih.gov/articles/PMC8123746/