VWF c.2438dup ;(p.M814Hfs*5)

Variant ID: 12-6153460-G-GC

NM_000552.3(VWF):c.2438dup;(p.M814Hfs*5)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Exome sequencing of familial high-grade serous ovarian carcinoma reveals heterogeneity for rare candidate susceptibility genes.

Nature Communications
Subramanian, Deepak N DN; Zethoven, Magnus M; McInerny, Simone S; Morgan, James A JA; Rowley, Simone M SM; Lee, Jue Er Amanda JEA; Li, Na N; Gorringe, Kylie L KL; James, Paul A PA; Campbell, Ian G IG
Publication Date: 2020-04-02

Variant appearance in text: VWF: 2438dupG
PubMed Link: 32242007
Variant Present in the following documents:
  • 41467_2020_15461_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



Pharmacokinetics and safety of a novel recombinant human von Willebrand factor manufactured with a plasma-free method: a prospective clinical trial.

Blood
Mannucci, Pier Mannuccio PM; Kempton, Christine C; Millar, Carolyn C; Romond, Edward E; Shapiro, Amy A; Birschmann, Ingvild I; Ragni, Margaret V MV; Gill, Joan Cox JC; Yee, Thynn Thynn TT; Klamroth, Robert R; Wong, Wing-Yen WY; Chapman, Miranda M; Engl, Werner W; Turecek, Peter L PL; Suiter, Tobias M TM; Ewenstein, Bruce M BM; ,
Publication Date: 2013-08-01

Variant appearance in text: VWF: 2438dupG; M814HfsX5
PubMed Link: 23777763
Variant Present in the following documents:
  • Main text
View BVdb publication page



Cellular and molecular basis of von Willebrand disease: studies on blood outgrowth endothelial cells.

Blood
Starke, Richard D RD; Paschalaki, Koralia E KE; Dyer, Clare E F CE; Harrison-Lavoie, Kimberly J KJ; Cutler, Jacqueline A JA; McKinnon, Thomas A J TA; Millar, Carolyn M CM; Cutler, Daniel F DF; Laffan, Mike A MA; Randi, Anna M AM
Publication Date: 2013-04-04

Variant appearance in text: VWF: 2438dupG
PubMed Link: 23355534
Variant Present in the following documents:
  • Main text
View BVdb publication page