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    CPLA_A_343654_P 35..40
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    1. ClingenBaseline 21 Oct 2026
      9

      Case9: Female, 5 years old, Indian

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: N/A

      ParentalGenotype: N/A

      CasePresentingHPOs: HP:0000421 (Epistaxis)

      CaseHPOFreeText: Hematomas at the site of injury

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      ProteinExpression: HP:0000421

      PlateletAggregation: Diagnosis of GT was made on the basis of impaired platelet aggregation (platelet aggregation was tested against ristocetin, ADP, collagen, epinephrine and arachidonic acid)

      CasePreviousTesting: Multiplex PCR by using GPIIb primers and CSGE analysis were performed

      Gene: ITGA2B

      Variant: NM_000419.3:c.1230del

      LegacyVariant: N/A

      ClinVar: N/A

      CAiD: CA915940214

      gnomAD: N/A

      CaseInfo Individual Gene:ITGA2B InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:Frameshift Zygosity:NoZygosityAssertion CAiD:CA915940214 PreviousTesting:Partial ProteinExpression:Reported PlateletAggregation:Reported inferred_gene_hgnc:6138 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3

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