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