VWF c.4720_4722delinsCAA ;(p.N1574Q)

Variant ID: 12-6127862-GTT-TTG

NM_000552.3(VWF):c.4720_4722delinsCAA;(p.N1574Q)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


N-linked glycan stabilization of the VWF A2 domain.

Blood
Lynch, Christopher J CJ; Lane, David A DA
Publication Date: 2016-03-31

Variant appearance in text: VWF: N1574Q
PubMed Link: 26773038
Variant Present in the following documents:
  • Main text
View BVdb publication page



von Willebrand's disease: a report from a meeting in the Ă…land islands.

Haemophilia : The Official Journal Of The World Federation Of Hemophilia
Berntorp, E E; Peake, I I; Budde, U U; Laffan, M M; Montgomery, R R; Windyga, J J; Goodeve, A A; Petrini, P P; von Depka, M M; Miesbach, W W; Lillicrap, D D; Federici, A B AB; Lassila, R R; White, G G
Publication Date: 2012-09

Variant appearance in text: VWF: N1574Q
PubMed Link: 22906074
Variant Present in the following documents:
  • Main text
View BVdb publication page