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    1. ClingenBaseline 25 Oct 2026
      Glanzmann patient (LM

      Case1: (Patient LM) Gender, age, and ethnicity not specified

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: N/A

      ParentalGenotype: N/A (Immunoblot analysis of parents is the only thing available)

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      ProteinExpression: Immunoblot analysis was performed see Fig 1

      PlateletAggregation: N/A

      CasePreviousTesting: Sequence analysis of PCR amplified GPIIIb mRNA

      Gene: ITGA2B

      Variant: NM_000419.3:c.1346G>A (p.Gly449Asp)

      LegacyVariant: (p.Gly418Asp)

      ClinVar: 691627

      CAiD: CA399803552

      gnomAD: N/A

      CaseInfo Individual Gene:ITGA2B InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:Missense Zygosity:NoZygosityAssertion CAiD:CA399803552 PreviousTesting:Partial PlateletAggregation:Reported ProteinExpression:Reported ClinVarID:691627 inferred_gene_hgnc:6138 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3
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    jbc.org.libproxy.lib.unc.edu/content/269/6/4450.full.pdf