VWF c.8027G>T ;(p.C2676F)

Variant ID: 12-6061645-C-A

NM_000552.3(VWF):c.8027G>T;(p.C2676F)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Insights into pathological mechanisms of missense mutations in C-terminal domains of von Willebrand factor causing qualitative or quantitative von Willebrand disease.

Haematologica
Yadegari, Hamideh H; Driesen, Julia J; Pavlova, Anna A; Biswas, Arijit A; Ivaskevicius, Vytautas V; Klamroth, Robert R; Oldenburg, Johannes J
Publication Date: 2013-08

Variant appearance in text: VWF: Cys2676Phe
PubMed Link: 23539537
Variant Present in the following documents:
  • Main text
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