VWF c.7627C>T ;(p.Q2543*)

Variant ID: 12-6078479-G-A

NM_000552.3(VWF):c.7627C>T;(p.Q2543*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Novel insights into the clinical phenotype and pathophysiology underlying low VWF levels.

Blood
Lavin, Michelle M; Aguila, Sonia S; Schneppenheim, Sonja S; Dalton, Niall N; Jones, Kenneth L KL; O'Sullivan, Jamie M JM; O'Connell, Niamh M NM; Ryan, Kevin K; White, Barry B; Byrne, Mary M; Rafferty, Marie M; Doyle, Mairead M MM; Nolan, Margaret M; Preston, Roger J S RJS; Budde, Ulrich U; James, Paula P; Di Paola, Jorge J; O'Donnell, James S JS
Publication Date: 2017-11-23

Variant appearance in text: VWF: 7627C>T
PubMed Link: 28916584
Variant Present in the following documents:
  • Main text
View BVdb publication page