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RYR1 c.1453_1454delinsTG ;(p.M485W)
Variant ID: 19-38945887-AT-TG
NM_000540.2(
RYR1
):c.1453_1454delinsTG;(p.M485W)
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:
Review of RyR1 pathway and associated pathomechanisms.
Acta Neuropathologica Communications
Witherspoon, Jessica W JW; Meilleur, Katherine G KG
Publication Date: 2016-11-17
Variant appearance in text: RYR1: M485W
PubMed Link:
27855725
Variant Present in the following documents:
Main text
40478_2016_Article_392.pdf
View BVdb publication page