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TTN c.3250T>A ;(p.F1084I)
Variant ID: 2-179647069-A-T
NM_001267550.1(
TTN
):c.3250T>A;(p.F1084I)
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:
Energetic and structural details of the trigger-loop closing transition in RNA polymerase II.
Biophysical Journal
Wang, Beibei B; Predeus, Alexander V AV; Burton, Zachary F ZF; Feig, Michael M
Publication Date: 2013-08-06
Variant appearance in text: TMD: F1084I
PubMed Link:
23931324
Variant Present in the following documents:
Main text
View BVdb publication page