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

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1. Vibhor 09 Jul 2026
  
  in exploring_annotations
  
  Supplementary TableS10
  
  This variant is listed for Stargardt DNAID#067322 in trans with c.5603A>T p.(Asn1868Ile). No phenotype information provided.
  
  CaseInfo Individual SupplementalTable CAID:CA227421 ClinGen ABCA4 Annotations hgnc_imputed:bare_hgvs
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hgnc_imputed:bare_hgvs

ClinGen ABCA4 Annotations

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CAID:CA227421

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Vibhor

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