Log in Sign up
1 Matching Annotations
  1. Last 7 days
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Genotypic spectrum and phenotype correlations of ABCA4-associated disease in patients of south Asian descent
    1
    1. ClingenBaseline 22 Oct 2026
      in Baseline Annotations
      3690168F251stPakistanip.(W31R)p.(W31R)10/16010/160

      W31R variant in homozygosity

      CaseInfo Individual CA341286761 inferred_gene_hgnc:34 inferred_gene_source:CAID UNC Biocuration Core
    Visit annotations in context

    Tags

    • CaseInfo
    • UNC Biocuration Core
    • CA341286761
    • Individual
    • inferred_gene_hgnc:34
    • inferred_gene_source:CAID

    Annotators

    • ClingenBaseline

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC5477356/
Share:
Group. Only group members will be able to view this annotation.
Only me. No one else will be able to view this annotation.
Hypothes.is
  • About
  • Blog
  • Bioscience
  • Education
  • Jobs
  • Help
  • Contact
  • Terms of Service
  • Privacy Policy