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TTN c.721A>C ;(p.I241L)
Variant ID: 2-179664407-T-G
NM_001267550.1(
TTN
):c.721A>C;(p.I241L)
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:
Intermediate state trapping of a voltage sensor.
The Journal Of General Physiology
Lacroix, Jérôme J JJ; Pless, Stephan A SA; Maragliano, Luca L; Campos, Fabiana V FV; Galpin, Jason D JD; Ahern, Christopher A CA; Roux, Benoît B; Bezanilla, Francisco F
Publication Date: 2012-12
Variant appearance in text: TMD: I241L
PubMed Link:
23183699
Variant Present in the following documents:
Main text
JGP_201210827.pdf
View BVdb publication page