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  2. Local file Local file
    Jackson_et_al-2017-European_Journal_of_Biochemistry.pdf
    1
    1. ClingenBaseline 24 Oct 2026
      Type I thrombasthenic patient, FLD

      Case3: Patient FLD

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: N/A

      ParentalGenotype: N/A

      CasePresentingHPOs:

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOsFreeText: N/A

      ProteinExpression: N/A

      PlateletAggregation: N/A

      CasePreviousTesting: N/A

      Gene: ITGA2B

      Variant: NM_000419.3:c.818G>A (p.Gly273Asp)

      LegacyVariant: (G242D)

      ClinVar: 2894

      CAiD: CA115837

      gnomAD: N/A

      CaseInfo Individual Gene:ITGA2B InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:Missense Zygosity:Homozygous CAiD:CA115837 ClinVarID:2894 ProteinExpression:NotReported PlateletAggregation:NotReported inferred_gene_hgnc:6138 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3

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  3. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    High-level transgene expression in induced pluripotent stem cell–derived megakaryocytes: correction of Glanzmann thrombasthenia
    1
    1. ClingenBaseline 23 Oct 2026
      GTP2

      Case2: GTP2, gender, age, or ethnicity not specified

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: N/A

      ParentalGenotype: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOsFreeText: N/A

      ProteinExpression: N/A

      PlateletAggregation: N/A

      CasePreviousTesting: N/A

      Gene: ITGA2B

      Variant: NM_000419.3:c.818G>A (p.Gly273Asp)

      LegacyVariant: N/A

      ClinVar: 2894

      CAiD: CA115837

      gnomAD: N/A

      CaseInfo Individual Gene:ITGA2B InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:Missense Zygosity:NoZygosityAssertion ProteinExpression:NotReported PlateletAggregation:NotReported CAiD:CA115837 ClinVarID:2894 inferred_gene_hgnc:6138 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3
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    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC3907760/