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    1. ClingenBaseline 22 Oct 2026
      22CabGT-22

      Case22: (Proband CabGT-22), Female, age not specified, South American

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: N/A

      ParentalGenotype: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      ProteinExpression:

      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.431T>G (p.Met144Ter)

      LegacyVariant: N/A

      ClinVar: N/A

      CAiD: CA291224645

      gnomAD N/A

      CaseInfo Individual InheritancePattern:NoInheritanceAssertion Gene:ITGB3 DiseaseEntity:GlanzmannThrombasthenia Mutation:Missense Zygosity:Homozygous CAiD:CA291224645 ProteinExpression:Reported PlateletAggregation:NotReported inferred_gene_hgnc:6156 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3

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