MYBPC3 c.2228A>T ;(p.K743M)

Variant ID: 11-47360151-T-A

NM_000256.3(MYBPC3):c.2228A>T;(p.K743M)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Identification of MYLK3 mutations in familial dilated cardiomyopathy.

Scientific Reports
Tobita, Takashige T; Nomura, Seitaro S; Morita, Hiroyuki H; Ko, Toshiyuki T; Fujita, Takanori T; Toko, Haruhiro H; Uto, Kenta K; Hagiwara, Nobuhisa N; Aburatani, Hiroyuki H; Komuro, Issei I
Publication Date: 2017-12-13

Variant appearance in text: MYBPC3: 2228A>T; K743M
PubMed Link: 29235529
Variant Present in the following documents:
  • 41598_2017_17769_MOESM1_ESM.pdf
View BVdb publication page