VWF c.4958A>T ;(p.D1653V)

Variant ID: 12-6127626-T-A

NM_000552.3(VWF):c.4958A>T;(p.D1653V)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


A common mechanism by which type 2A von Willebrand disease mutations enhance ADAMTS13 proteolysis revealed with a von Willebrand factor A2 domain FRET construct.

Plos One
Lynch, Christopher J CJ; Cawte, Adam D AD; Millar, Carolyn M CM; Rueda, David D; Lane, David A DA
Publication Date: 2017

Variant appearance in text: VWF: D1653V
PubMed Link: 29186156
Variant Present in the following documents:
  • Main text
  • pone.0188405.pdf
View BVdb publication page