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TTN c.701T>G ;(p.I234S)
Variant ID: 2-179664427-A-C
NM_001267550.1(
TTN
):c.701T>G;(p.I234S)
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:
Molecular determinants of ivermectin sensitivity at the glycine receptor chloride channel.
The Journal Of Biological Chemistry
Lynagh, Timothy T; Webb, Timothy I TI; Dixon, Christine L CL; Cromer, Brett A BA; Lynch, Joseph W JW
Publication Date: 2011-12-23
Variant appearance in text: TMD: I234S
PubMed Link:
22033924
Variant Present in the following documents:
Main text
View BVdb publication page