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    How I manage pregnancy in women with Glanzmann thrombasthenia
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    1. ClingenBaseline 27 Oct 2026
      Case 1

      Case#: Case 1, 35 yo Female

      DiseaseAssertion: Glanzmann thrombasthenia

      ParentalGenotype: Not provided

      CasePresentingHPOs: (HP:0031364, Ecchymosis) (HP:0034000, Tracheal hemorrhage)

      PlateletAggregation: Responded partially to tranexamic acid

      CaseHPOFreeText: intrauterine blood clots

      CaseNotHPOs:

      CaseNotHPOFreeText:

      ProteinExpression: Western blot, trace amounts of αIIb and residual expression of β3

      CasePreviousTesting: Molecular analysis

      PreviouslyPublished: Not provided

      Gene: ITGA2B

      HGVS: NM_000419.5:c.2095-19T>A

      ClinVar: 1691455 https://www.ncbi.nlm.nih.gov/clinvar/variation/1691455/

      CAID: CA915940312

      gnomAD: Absent

      Gene: ITGA2B

      HGVS: NM_000419.5:c.2770C>T

      ClinVar: 1691475 https://www.ncbi.nlm.nih.gov/clinvar/variation/1691475/

      CAID: CA399792054

      gnomAD: PopMax = 0.000002616 https://gnomad.broadinstitute.org/variant/17-44375069-G-A?dataset=gnomad_r4

      InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:Nonsense Mutation:Missense Zygosity:CompoundHeterozygous ClinVarID:1691455 CAid:CA915940312 ClinVarID:1691475 CAid:CA399792054 PlatletAggregation:NotReported ProteinExpression:MinimalInformation inferred_gene_hgnc:6138 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3
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    sciencedirect.com/science/article/pii/S0006497122003743