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    1. ClingenBaseline 21 Oct 2026
      21CabGT-21

      Case21: (ProbandGT-21) Male, age not specified, Caucasian

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: N/A

      ParentalGenotype: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      ProteinExpression: Flow cytometry showed <5% GPIIIa and GPIIIb surface expression

      Platelet Aggregation: N/A

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

      Gene: ITGB3

      Variant: NM_000212.2:c.191G>A (p.Cys64Tyr) the second mutation was not identified

      LegacyVariant: N/A

      ClinVar: N/A

      CAiD: CA291224490

      gnomAD N/A

      CaseInfo Individual Gene:ITGB3 InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:Missense CAiD:CA291224490 ProteinExpression:Reported PlateletAggregation:NotReported inferred_gene_hgnc:6156 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3

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