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    Expanding the Mutation Spectrum Affecting &#x003B1;IIb&#x003B2;3 Integrin in Glanzmann Thrombasthenia: Screening of the <i>ITGA2B</i> and <i>ITGB3</i> Genes in a Large International Cohort
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    1. ClingenBaseline 23 Oct 2026

      Supplementary Table S1 & S2 Proband and Variant Information:

      Case53: GT53, Male, 16 years old, Argentenian/Brazilian

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: N/A

      ParentalGenotype: N/A

      CasePresentingHPOs: HP:0000421

      (Epistaxis)

      CaseHPOFreeText: Hematomas

      CaseNotHPOs: N/A

      CaseNotHPOsFreeText: N/A

      ProteinExpression: Flow cytometry showed <5% expression of αIIbβ3 (See Supplementary Table 1)

      PlateletAggregation: Absent platelet aggregation (See Supplementary Table 1)

      CasePreviousTesting: Sanger sequencing of ITGA2B and ITGB3

      Gene: ITGB3

      Variant: NM_000212.2:c.356G>A (p.Gly201Ser) and NM_000212.2:c.1697G>A (p.Arg119Gln)

      LegacyVariant: N/A

      ClinVar: N/A

      CAiD: CA8622925 and CA400032338

      gnomAD: MAF in the African population is http://gnomad.broadinstitute.org/variant/17-45360910-G-A

      CaseInfo Individual Gene:ITGB3 InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:Missense Zygosity:CompoundHeterozygous CAiD: CA400032338 CAiD:CA8622925 PreviousTesting:Full ProteinExpression:Reported PlateletAggregation:MinimalInformation SupplementalData inferred_gene_hgnc:6156 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3

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