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    Acquired Antibodies to αIIbβ3 in Glanzmann Thrombasthenia: From Transfusion and Pregnancy to Bone Marrow Transplants and Beyond
    1
    1. ClingenBaseline 21 Oct 2026
      20.

      Case20: Female, age not specified

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: N/A

      ParentalGenotype: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: Moderate bleeding

      CaseNotHPOs: N/A

      CaseNotHPOsFreeText: N/A

      ProteinExpression: N/A

      PlateletAggregation: Minimal information, not specific enough

      CasePreviousTesting: N/A

      Gene: ITGA2B

      Variant: NM_000419.3:c.889G>A (p.Gly296Arg) **authors say (Gly297Arg) but ensembl shows Gly296Arg

      LegacyVariant: N/A

      ClinVar: N/A

      CAiD: CA8603304

      gnomAD: MAF in the South Asian population is 0.0003267https://gnomad.broadinstitute.org/variant/17-42461681-C-T

      CaseInfo Individual Gene:ITGA2B InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:Missense PlateletAggregation:MinimalInformation ProteinExpression:NotReported Zygosity:Heterozygous CAiD:CA8603304 inferred_gene_hgnc:6138 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3
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    reader.elsevier.com/reader/sd/pii/S0887796318300373