VWF c.1147G>T ;(p.E383*)

Variant ID: 12-6180472-C-A

NM_000552.3(VWF):c.1147G>T;(p.E383*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Whole-exome analysis of adolescents with low VWF and heavy menstrual bleeding identifies novel genetic associations.

Blood Advances
Sadler, Brooke B; Minard, Charles G CG; Haller, Gabe G; Gurnett, Christina A CA; O'Brien, Sarah H SH; Wheeler, Allison A; Jain, Shilpa S; Sharma, Mutka M; Zia, Ayesha A; Kulkarni, Roshni R; Mullins, Eric E; Ragni, Margaret V MV; Sidonio, Robert R; Dietrich, Jennifer E JE; Kouides, Peter A PA; Di Paola, Jorge J; Srivaths, Lakshmi L
Publication Date: 2022-01-25

Variant appearance in text: VWF: E383X
PubMed Link: 34807970
Variant Present in the following documents:
  • Main text
  • advancesADV2021005118.pdf
View BVdb publication page



Whole-exome analysis of adolescents with low VWF and heavy menstrual bleeding identifies novel genetic associations.

Blood Advances
Sadler, Brooke B; Minard, Charles C; Haller, Gabe G; Gurnett, Christina A CA; O'Brien, Sarah H SH; Wheeler, Allison P AP; Jain, Shilpa S; Sharma, Mukta M; Zia, Ayesha A; Kulkarni, Roshni R; Mullins, Eric S ES; Ragni, Margaret V MV; Sidonio, Robert Francis RF; Dietrich, Jennifer E JE; Kouides, Peter P; Di Paola, Jorge J; Srivaths, Lakshmi Venkat LV
Publication Date: 2021-11-22

Variant appearance in text: VWF: E383X
PubMed Link: 34807970
Variant Present in the following documents:
  • Main text
  • advancesADV2021005118.pdf
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: 1147G>T; E383X
PubMed Link: 23777763
Variant Present in the following documents:
  • Main text
View BVdb publication page