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RYR1 c.647_648delinsAG ;(p.G216E)
Variant ID: 19-38937127-GT-AG
NM_000540.2(
RYR1
):c.647_648delinsAG;(p.G216E)
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:
Disease mutations in the ryanodine receptor N-terminal region couple to a mobile intersubunit interface.
Nature Communications
Kimlicka, Lynn L; Lau, Kelvin K; Tung, Ching-Chieh CC; Van Petegem, Filip F
Publication Date: 2013
Variant appearance in text: RYR1: G216E
PubMed Link:
23422674
Variant Present in the following documents:
Main text
ncomms2501-s1.pdf
ncomms2501.pdf
View BVdb publication page