SI c.3875A>G ;(p.Y1292C)

Variant ID: 3-164733753-T-C

NM_001041.3(SI):c.3875A>G;(p.Y1292C)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Targeted Therapies for Skeletal Muscle Ion Channelopathies: Systematic Review and Steps Towards Precision Medicine.

Journal Of Neuromuscular Diseases
Desaphy, Jean-François JF; Altamura, Concetta C; Vicart, Savine S; Fontaine, Bertrand B
Publication Date: 2021

Variant appearance in text: SI: 3875A>G
PubMed Link: 33325393
Variant Present in the following documents:
  • jnd-8-jnd200582.pdf
View BVdb publication page