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    1. ClingenBaseline 22 Oct 2026
      16CabGT-16

      Case16: (Proband CabGT-16), Male, age not specified, North African

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: N/A

      ParentalGenotype: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      ProteinExpression: Flow cytometry showed 2% GPIIb and 10% GPIIIa surface expression

      Platelet Aggregation: N/A

      CasePreviousTesting: Promoter and exon sequences of aIIb and b3 genes were amplified and directly sequence

      Gene: ITGA2B

      Variant: NM_000419.3:c.2870C>T (p.Ser957Leu)

      LegacyVariant: N/A

      ClinVar: 2902

      CAiD: CA115850

      gnomAD N/A

      CaseInfo Individual Gene:ITGA2B InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:Missense Zygosity:Homozygous ProteinExpression:Reported PlateletAggregation:NotReported CAiD:CA115850 ClinVarID:2902 inferred_gene_hgnc:6138 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3

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