MYH7 c.2446T>G ;(p.W816G)

Variant ID: 14-23894211-A-C

NM_000257.2(MYH7):c.2446T>G;(p.W816G)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Molecular basis for clinical heterogeneity in inherited cardiomyopathies due to myopalladin mutations.

Human Molecular Genetics
Purevjav, Enkhsaikhan E; Arimura, Takuro T; Augustin, Sibylle S; Huby, Anne-Cecile AC; Takagi, Ken K; Nunoda, Shinichi S; Kearney, Debra L DL; Taylor, Michael D MD; Terasaki, Fumio F; Bos, Johan M JM; Ommen, Steve R SR; Shibata, Hiroki H; Takahashi, Megumi M; Itoh-Satoh, Manatsu M; McKenna, William J WJ; Murphy, Ross T RT; Labeit, Siegfried S; Yamanaka, Yoichi Y; Machida, Noboru N; Park, Jeong-Euy JE; Alexander, Peta M A PM; Weintraub, Robert G RG; Kitaura, Yasushi Y; Ackerman, Michael J MJ; Kimura, Akinori A; Towbin, Jeffrey A JA
Publication Date: 2012-05-01

Variant appearance in text: MYH7: W816G
PubMed Link: 22286171
Variant Present in the following documents:
  • Main text
View BVdb publication page