VWF c.3939G>A ;(p.W1313*)

Variant ID: 12-6128645-C-T

NM_000552.3(VWF):c.3939G>A;(p.W1313*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Abnormal angiogenesis in blood outgrowth endothelial cells derived from von Willebrand disease patients.

Blood Coagulation & Fibrinolysis : An International Journal In Haemostasis And Thrombosis
Selvam, Soundarya N SN; Casey, Lara J LJ; Bowman, Mackenzie L ML; Hawke, Lindsey G LG; Longmore, Avery J AJ; Mewburn, Jeffrey J; Ormiston, Mark L ML; Archer, Stephen L SL; Maurice, Donald H DH; James, Paula P
Publication Date: 2017-10

Variant appearance in text: VWF: 3939G>A
PubMed Link: 28362648
Variant Present in the following documents:
  • Main text
View BVdb publication page



Characterization of aberrant splicing of von Willebrand factor in von Willebrand disease: an underrecognized mechanism.

Blood
Hawke, Lindsey L; Bowman, Mackenzie L ML; Poon, Man-Chiu MC; Scully, Mary-Frances MF; Rivard, Georges-Etienne GE; James, Paula D PD
Publication Date: 2016-07-28

Variant appearance in text: VWF: 3939G>A
PubMed Link: 27317792
Variant Present in the following documents:
  • Main text
View BVdb publication page



The genetics of Canadian type 3 von Willebrand disease: further evidence for co-dominant inheritance of mutant alleles.

Journal Of Thrombosis And Haemostasis : Jth
Bowman, M M; Tuttle, A A; Notley, C C; Brown, C C; Tinlin, S S; Deforest, M M; Leggo, J J; Blanchette, V S VS; Lillicrap, D D; James, P P; ,
Publication Date: 2013-03

Variant appearance in text: VWF: 3939G>A
PubMed Link: 23311757
Variant Present in the following documents:
  • Main text
View BVdb publication page