Hypothesis

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pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov

Recessive multiple epiphyseal dysplasia and Stargardt disease in two sisters

1
1. Vibhor 26 Jul 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 automated_hgnc:34 automated_hgnc_source:Gene_Name ClinGen ABCA4 Annotations
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Tags

automated_hgnc:34

Gene: ABCA4

Disease: stargardt syndrome

ClinGen ABCA4 Annotations

Gene: SLC26A2

Disease: epiphyseal dysplasia

PMID: 33724725

automated_hgnc_source:Gene_Name

Annotators

Vibhor

URL

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