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    Two Types of Procoagulant Platelets Are Formed Upon Physiological Activation and Are Controlled by Integrin αIIbβ3 | Arteriosclerosis, Thrombosis, and Vascular Biology
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    1. ClingenBaseline 23 Oct 2026
      patient (GT-1

      Case1: GT-1, gender, age, ethnicity not specified

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: N/A

      ParentalGenotype: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: Relatively mild bleeding syndrome and does not routinely require treatment except for iron supplementation

      CaseNotHPOs: N/A

      CaseNotHPOsFreeText: N/A

      ProteinExpression: Flow cytometry showed that this patient lacked integrin αIIbβ3 expression

      PlateletAggregation: Platelets failed to aggregate with physical agonists

      CasePreviousTesting: N/A

      Gene: ITGA2B

      Variant: NM_000419.3:c.2933G>T (p.Gly978Val) and NM_000419.3:c.2994G>A (p.Trp998Ter)

      LegacyVariant: N/A

      ClinVar: N/A

      CAiD: CA399790478 and CA399789759

      gnomAD: N/A

      CaseInfo Individual InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:Missense Mutation:Nonsense Zygosity:CompoundHeterozygous ProteinExpression:Reported PlateletAggregation:Reported Gene:ITGA2B CAiD:CA399790478 CAiD:CA399789759 inferred_gene_hgnc:6138 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3
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    ahajournals.org/doi/full/10.1161/ATVBAHA.112.253765