7 Matching Annotations
  1. Last 7 days
    1. mutations

      Case#: Chan_Hong Kong 2 & Chan_Hong Kong 3 (Southern Chinese, assumed male)

      DiseaseAssertion: Severe Hemophilia B

      FamilyInfo: Carrier testing of at risk females in each family was completed by direct restriction enzyme analysis after determination of the specific FIX defect for the index patient

      ParentalTesting: N/A

      CasePresentingHPOs: HP:0011858

      CaseHPOsFreeText: reduced factor IX activity (Chan_Hong Kong 2 FIX:Ag: 0.93; FIX:C: 0.04) (Chan_Hong Kong 3 FIXAg: 0.82; FIX:C: 0.01)

      CaseNotHPOs: N/A

      CasePreviousTesting: N/A

      Gene: F9

      Variant: NM_000133.4:c.128G>A (p.Arg43Gln)

      LegacyVariant: c.6365 G>A (p.Arg-4Gln)

      ClinVar: 810864

      CAID: CA414435539

      gnomAD: Absent/Not Reported

  2. Nov 2025
  3. Aug 2022
  4. www.janeausten.pludhlab.org www.janeausten.pludhlab.org
    1. obscure birth into undue distinction

      Sir Walter bases peoples worth on their lineage, not their actions or character - he mocks Lord St Ives for his father being a poor curate like this somehow makes him less of a person. Titles aren't worth anything to him if they are earned. Which is funny because Baronet is a title that could be bought or "earned" (gifted for performing some duty for royalty), it is the lowest ranked title that can be inherited. For all his airs Sir Walter isn't even part of the nobility.

  5. Feb 2021
  6. Feb 2017
  7. Feb 2014