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    Should studies on Glanzmann thrombasthenia not be telling us more about cardiovascular disease and other major illnesses?
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    1. ClingenBaseline 23 Oct 2026
      Adult woman/France

      Case5: Woman (adult), age not specified, France

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: N/A

      ParentalGenotype: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      ProteinExpression: Variant GT; therefore, 50% expression alphaIIbbeta3 (See Table 4)

      Platelet Aggregation: N/A

      CasePreviousTesting: N/A

      Gene: ITGB3

      Variant: NM_000212.2:c.2227_2229CTC (p.Leu744del)

      LegacyVariant: (p.Leu718del)

      ClinVar: 627279

      CAiD: CA915940812

      gnomAD N/A

      PreviouslyPublished: PMID: 29296966

      CaseInfo Individual Gene:ITGB3 InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:SingleNucleotideDeletion Zygosity:NoZygosityAssertion ClinVarID:627279 ProteinExpression:MinimalInformation PlateletAggregation:NotReported PreviouslyPublished CAiD:CA915940812 inferred_gene_hgnc:11949 inferred_gene_source:ClinVar ClinGen ITGA2B/ITGB3
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    sciencedirect.com/science/article/pii/S0268960X17300073