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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 25 Oct 2026

      Supplementary Table S1 & S2 Proband and Variant Information:

      Case39: GT40, Female, 17 years old, Pankistani

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: N/A

      ParentalGenotype: N/A

      CasePresentingHPOs: HP:0000421, HP:0030140

      (Epistaxis, bleeding from mouth)

      CaseHPOFreeText: Heavy bleeding at menarche

      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: ITGA2B

      Variant: NM_000419.3:c.857T>A (p.Val286Asp)

      LegacyVariant: N/A

      ClinVar: N/A

      CAiD: CA399805011

      gnomAD: N/A

      CaseInfo Individual Gene:ITGA2B InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:Missense Zygosity:Homozygous CAiD: CA399805011 PreviousTesting:Full ProteinExpression:Reported PlateletAggregation:MinimalInformation SupplementalData inferred_gene_hgnc:6138 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3

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