VWF c.1495C>T ;(p.Q499*)

Variant ID: 12-6172158-G-A

NM_000552.3(VWF):c.1495C>T;(p.Q499*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Linker regions and flexibility around the metalloprotease domain account for conformational activation of ADAMTS-13.

Journal Of Thrombosis And Haemostasis : Jth
Deforche, L L; Roose, E E; Vandenbulcke, A A; Vandeputte, N N; Feys, H B HB; Springer, T A TA; Mi, L Z LZ; Muia, J J; Sadler, J E JE; Soejima, K K; Rottensteiner, H H; Deckmyn, H H; De Meyer, S F SF; Vanhoorelbeke, K K
Publication Date: 2015-11

Variant appearance in text: VWF: Q499X
PubMed Link: 26391536
Variant Present in the following documents:
  • Main text
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