1 Matching Annotations
  1. Last 7 days
    1. 25*IranM/201—YesMild7674insCFS45HomozygousBglI (−)

      Case: 25, M, 20, Iranian

      DiseaseAssertion: VWD type 3

      FamilyInfo: Consanguinity: Yes

      ParentalGenotype: n/a

      CasePresentingHPOs: n/a

      CaseHPOFreeText: VWF:Ag (U/dl): 1, Bleeding symptoms: Mild

      CaseNotHPOs: n/a

      CaseNotHPOFreeText: Anti-VWF alloantibodies: no

      CasePreviousTesting: n/a

      Gene: VWF

      Variant:

      7674insC (FS), Exon 45, Homozygous