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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov

Whole exome sequencing detects homozygosity for ABCA4 p.Arg602Trp missense mutation in a pediatric patient with rapidly progressive retinal dystrophy

1
1. Vibhor 26 Jul 2026
  
  in read_only_demo_group
  
  Whole exome sequencing detects homozygosity for ABCA4 p.Arg602Trp missense mutation in a pediatric patient with rapidly progressive retinal dystrophy
  
  PMID: 24444108
  
  Gene: ABCA4
  
  HGNC ID: 34
  
  General Gene:ABCA4 HGNC:34 OpenAccess PMID:34440414 automated_hgnc:34 automated_hgnc_source:hgnc_tag ClinGen ABCA4 Annotations
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Tags

automated_hgnc:34

Gene:ABCA4

General

ClinGen ABCA4 Annotations

PMID:34440414

HGNC:34

automated_hgnc_source:hgnc_tag

OpenAccess

Annotators

Vibhor

URL

pubmed.ncbi.nlm.nih.gov/24444108/