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PRRT2 c.539A>T ;(p.E180V)
Variant ID: 16-29824914-A-T
NM_145239.2(
PRRT2
):c.539A>T;(p.E180V)
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:
Myofibrillar remodeling in cardiac hypertrophy, heart failure and cardiomyopathies.
The Canadian Journal Of Cardiology
Machackova, Jarmila J; Barta, Judit J; Dhalla, Naranjan S NS
Publication Date: 2006-09
Variant appearance in text: PKC: Glu180Val
PubMed Link:
16971981
Variant Present in the following documents:
Main text
View BVdb publication page