VWF c.2354G>A ;(p.G785E)

Variant ID: 12-6153545-C-T

NM_000552.3(VWF):c.2354G>A;(p.G785E)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


A novel mouse model of type 2N VWD was developed by CRISPR/Cas9 gene editing and recapitulates human type 2N VWD.

Blood Advances
Shi, Qizhen Q; Fahs, Scot A SA; Mattson, Jeremy G JG; Yu, Hongyin H; Perry, Crystal L CL; Morateck, Patricia A PA; Schroeder, Jocelyn A JA; Rapten, Jessica J; Weiler, Hartmut H; Montgomery, Robert R RR
Publication Date: 2022-05-10

Variant appearance in text: VWF: G785E
PubMed Link: 35015821
Variant Present in the following documents:
  • Main text
  • advancesADV2021006353.pdf
View BVdb publication page



Solution structure of the major factor VIII binding region on von Willebrand factor.

Blood
Shiltagh, Nuha N; Kirkpatrick, John J; Cabrita, Lisa D LD; McKinnon, Tom A J TA; Thalassinos, Konstantinos K; Tuddenham, Edward G D EG; Hansen, D Flemming DF
Publication Date: 2014-06-26

Variant appearance in text: VWF: G785E
PubMed Link: 24700780
Variant Present in the following documents:
  • Main text
View BVdb publication page