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1 Matching Annotations
  1. Sep 2026
  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    A Comprehensive Survey of Sequence Variation in the ABCA4 (ABCR) Gene in Stargardt Disease and Age-Related Macular Degeneration
    1
    1. Vibhor 12 Sep 2026
      in read_only_demo_group
      1654G→A V552I 0 0 2 This study

      This variant was found in 2 control alleles. No additional details

      BS2 Individual CAID:CA239745 inferred_gene_hgnc:34 inferred_gene_source:CAID ClinGen ABCA4 Annotations
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    Tags

    • ClinGen ABCA4 Annotations
    • BS2
    • CAID:CA239745
    • inferred_gene_source:CAID
    • Individual
    • inferred_gene_hgnc:34

    Annotators

    • Vibhor

    URL

    pmc.ncbi.nlm.nih.gov/articles/PMC1287885/
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Hypothes.is
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