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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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