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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 26 Oct 2026
      Adult woman/Belgium

      Case3: Female (adult), 48 years old, Belgium

      DiseaseAssertion: Glanzmann thrombasthenia (also has cancer)

      FamilyInfo: N/A

      ParentalGenotype: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      ProteinExpression: N/A

      Platelet Aggregation: N/A

      CasePreviousTesting: N/A

      Gene: ITGA2B

      Variant: NM_000419.3:c.1772A>C (p.Asp591Ala)

      LegacyVariant: (p.Asp560Ala)

      ClinVar: N/A

      CAiD: CA8602942

      gnomAD MAF in the European (non-Finnish) population is 0.00001556 https://gnomad.broadinstitute.org/variant/17-42457163-T-G

      PreviouslyPublished: PMID: 21919374

      CaseInfo Individual Gene:ITGA2B InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:Missense Zygosity:NoZygosityAssertion CAiD:CA8602942 ProteinExpression:NotReported PlateletAggregation:NotReported PreviouslyPublished inferred_gene_hgnc:6138 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3
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    sciencedirect.com/science/article/pii/S0268960X17300073