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TTN c.1970C>G ;(p.S657C)
Variant ID: 2-179654193-G-C
NM_001267550.1(
TTN
):c.1970C>G;(p.S657C)
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:
Biased signaling in naturally occurring mutations of G protein-coupled receptors associated with diverse human diseases.
Biochimica Et Biophysica Acta. Molecular Basis Of Disease
Yang, Li-Kun LK; Hou, Zhi-Shuai ZS; Tao, Ya-Xiong YX
Publication Date: 2021-01-01
Variant appearance in text: TMD: S657C
PubMed Link:
32949766
Variant Present in the following documents:
Main text
View BVdb publication page