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TTN c.76189C>T ;(p.Q25397*)
Variant ID: 2-179434670-G-A
NM_001267550.1(
TTN
):c.76189C>T;(p.Q25397*)
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:
Metabolite Signature in the Carriers of Pathogenic Genetic Variants for Cardiomyopathy: A Population-Based METSIM Study.
Metabolites
Ravi, Rowmika R; Fernandes Silva, Lilian L; Vangipurapu, Jagadish J; Maria, Maleeha M; Raivo, Joose J; Helisalmi, Seppo S; Laakso, Markku M
Publication Date: 2022-05-13
Variant appearance in text: TTN: Gln25397Ter
PubMed Link:
35629941
Variant Present in the following documents:
metabolites-12-00437.pdf
View BVdb publication page