Publications:

Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs374707563

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

p.P2063S: a neutral VWF variant masquerading as a mutation.

Annals Of Hematology

Hampshire, Daniel J DJ; Goodeve, Anne C AC

Publication Date: 2014-03

Variant appearance in text: VWF: 5200C>T; Q1734*

PubMed Link: 23775583

Variant Present in the following documents:

• Main text

View BVdb publication page

Identification and characterisation of mutations associated with von Willebrand disease in a Turkish patient cohort.

Thrombosis And Haemostasis

Hampshire, Daniel J DJ; Abuzenadah, Adel M AM; Cartwright, Ashley A; Al-Shammari, Nawal S NS; Coyle, Rachael E RE; Eckert, Michaela M; Al-Buhairan, Ahlam M AM; Messenger, Sarah L SL; Budde, Ulrich U; Gürsel, Türkiz T; Ingerslev, Jørgen J; Peake, Ian R IR; Goodeve, Anne C AC

Publication Date: 2013-08

Variant appearance in text: VWF: 5200C>T; Q1734*

PubMed Link: 23702511

Variant Present in the following documents:

• Main text

View BVdb publication page