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

1
1. Vibhor 16 Sep 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 inferred_gene_hgnc:34 inferred_gene_source:CAID ClinGen ABCA4 Annotations
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Tags

inferred_gene_hgnc:34

CaseInfo

Individual

inferred_gene_source:CAID

CA341277387

PM3

ClinVarID: 2021273

SupplementalTable

ClinGen ABCA4 Annotations

Annotators

Vibhor

URL

gimjournal.org/article/S1098-3600(21)01183-7/fulltext