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

Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics

1
1. Vibhor 26 Jul 2026
  
  in read_only_demo_group
  
  Supplementary TableS10
  
  This variant is listed for Stargardt DNAID#070949 in trans with c.3682G>A p.(Glu1228Lys). No phenotype information provided.
  
  SupplementalTable CaseInfo Individual PM3 CA341277387 ClinVarID: 2021273 automated_hgnc:34 automated_hgnc_source:CAID ClinGen ABCA4 Annotations
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Tags

ClinGen ABCA4 Annotations

CA341277387

SupplementalTable

ClinVarID: 2021273

automated_hgnc_source:CAID

CaseInfo

Individual

automated_hgnc:34

PM3

Annotators

Vibhor

URL

pubmed.ncbi.nlm.nih.gov/32307445/