SCN5A c.130_131delinsCT ;(p.E44L)

Variant ID: 3-38674668-TC-AG

NM_000335.4(SCN5A):c.130_131delinsCT;(p.E44L)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


The clinical features, outcomes and genetic characteristics of hypertrophic cardiomyopathy patients with severe right ventricular hypertrophy.

Plos One
Guo, Xiying X; Fan, Chaomei C; Tian, Lei L; Liu, Yanling Y; Wang, Hongyue H; Zhao, Shihua S; Duan, Fujian F; Zhang, Xiuling X; Zhao, Xing X; Wang, Fengqi F; Zhu, Hongguang H; Lin, Aiqing A; Wu, Xia X; Li, Yishi Y
Publication Date: 2017

Variant appearance in text: SCN5A: E44L
PubMed Link: 28323875
Variant Present in the following documents:
  • Main text
  • pone.0174118.pdf
View BVdb publication page