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