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  2. www.sciencedirect.com www.sciencedirect.com
    High Prevalence of a Rare Bleeding Disorder: A Report from Glanzmann Thrombasthenia Registry of Al-Madinah, Saudi Arabia
    1
    1. ClingenBaseline 21 Oct 2026
      in Baseline Annotations

      NM_002458:c.7975C>T

      Unable to identify variant for following reasons: 1) NM_002458 is forMUC5B not ITGA2B 2) ITGA2B c.7975 is outside the references in allele registry

      inferred_gene_hgnc:7516 inferred_gene_source:RefSeq ClinGen ITGA2B/ITGB3
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    • inferred_gene_source:RefSeq
    • inferred_gene_hgnc:7516
    • ClinGen ITGA2B/ITGB3

    Annotators

    • ClingenBaseline

    URL

    sciencedirect.com/science/article/pii/S0006497123050000
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