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    1. ClingenBaseline 24 Oct 2026
      8CabGT-8

      Case8: (Proband CabGT-8) Gender, age and ethnicity were not mentioned (See Supp Table S1) for confirmation of this

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: N/A

      ParentalGenotype: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      ProteinExpression: N/A

      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.1672C>T (p.Gln558Ter)

      LegacyVariant: N/A

      ClinVar: N/A

      CAiD: CA290949843

      gnomAD N/A

      CaseInfo Individual Gene:ITGA2B InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:Nonsense Zygosity:Homozygous CAiD:CA290949843 PlateletAggregation:NotReported ProteinExpression:NotReported inferred_gene_hgnc:6138 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3

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