RYR1 c.3256C>A ;(p.R1086S)

Variant ID: 19-38958327-C-A

NM_000540.2(RYR1):c.3256C>A;(p.R1086S)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Skeletal Muscle Microalterations in Patients Carrying Malignant Hyperthermia-Related Mutations of the e-c Coupling Machinery.

European Journal Of Translational Myology
Lavorato, Manuela M; Gupta, Pawan K PK; Hopkins, Philip M PM; Franzini-Armstrong, Clara C
Publication Date: 2016-09-15

Variant appearance in text: RYR1: R1086S
PubMed Link: 28078069
Variant Present in the following documents:
  • Main text
  • ejtm-2016-4-6105.pdf
View BVdb publication page