VWF c.1637T>G ;(p.V546G)

Variant ID: 12-6167107-A-C

NM_000552.3(VWF):c.1637T>G;(p.V546G)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Next-generation sequencing identifies rare variants associated with Noonan syndrome.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Chen, Peng-Chieh PC; Yin, Jiani J; Yu, Hui-Wen HW; Yuan, Tao T; Fernandez, Minerva M; Yung, Christina K CK; Trinh, Quang M QM; Peltekova, Vanya D VD; Reid, Jeffrey G JG; Tworog-Dube, Erica E; Morgan, Margaret B MB; Muzny, Donna M DM; Stein, Lincoln L; McPherson, John D JD; Roberts, Amy E AE; Gibbs, Richard A RA; Neel, Benjamin G BG; Kucherlapati, Raju R
Publication Date: 2014-08-05

Variant appearance in text: VWF: V546G
PubMed Link: 25049390
Variant Present in the following documents:
  • Main text
View BVdb publication page