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TTN c.92083T>C ;(p.S30695P)
Variant ID: 2-179414366-A-G
NM_001267550.1(
TTN
):c.92083T>C;(p.S30695P)
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:
Genetic Spectrum of Idiopathic Restrictive Cardiomyopathy Uncovered by Next-Generation Sequencing.
Plos One
Kostareva, Anna A; Kiselev, Artem A; Gudkova, Alexandra A; Frishman, Goar G; Ruepp, Andreas A; Frishman, Dmitrij D; Smolina, Natalia N; Tarnovskaya, Svetlana S; Nilsson, Daniel D; Zlotina, Anna A; Khodyuchenko, Tatiana T; Vershinina, Tatiana T; Pervunina, Tatiana T; Klyushina, Alexandra A; Kozlenok, Andrey A; Sjoberg, Gunnar G; Golovljova, Irina I; Sejersen, Thomas T; Shlyakhto, Eugeniy E
Publication Date: 2016
Variant appearance in text: TTN: S30695P
PubMed Link:
27662471
Variant Present in the following documents:
Main text
pone.0163362.pdf
View BVdb publication page