2 Matching Annotations
  1. Last 7 days
    1. (GRIN2B, rs7301328)

      Case: Multiple individuals with the same GRIN2B variant (the mean age was 76 ± 11 SD years (Range: 38–101), the mean age at PD onset was 67 ± 12 SD years (Range: 32–94), and 421 patients (63%) were male).

      Disease Assertion: Parkinson's disease

      FamilyInfo: None

      CasePresentingHPOs: HP:0001300

      CaseHPOFreeText: Parkinson's disease

      CaseNotHPOs: HP:0001250

      CasePreviousTesting: Polymorphism genotyping on Sequenom iPLEX ® platform

      PreviouslyPublished: No

      Variant: rs7301328

      ClinVarID: 129205