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    In silico analysis of structural modifications in and around the integrin αIIb genu caused by ITGA2B variants in human platelets with emphasis on Glanzmann thrombasthenia
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    1. ClingenBaseline 26 Oct 2026

      Supplemental Table S1:

      Cases19-23: Males and Females from France, North Africa, Italy and Germany, ages are not specified for these patients

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: N/A

      ParentalGenotype: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOsFreeText: N/A

      ProteinExpression: <5% αIIbβ3 expression

      PlateletAggregation: Absent platelet aggregation (all the information that is provided in Supp. Table S1)

      CasePreviousTesting: Sanger sequencing of exons, splice sites and untranslated regions of the ITGA2B and ITGB3 genes was performed

      Gene: ITGA2B

      Variant: NM_000419.3:c.1878G>T (p.Gln626His)

      LegacyVariant: N/A

      ClinVar: N/A

      CAiD: CA399801470

      gnomAD: N/A

      PreviouslyPublished: PMID: 21113249, 20020534, 22513797, 25728920

      CaseInfo Individual Gene:ITGA2B InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:Missense Zygosity:NoZygosityAssertion PreviousTesting:Full CAiD:CA399801470 PreviouslyPublished ProteinExpression:Reported PlateletAggregation:MinimalInformation SupplementalData inferred_gene_hgnc:6138 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3
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    europepmc.org/article/med/29385657