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TTN c.769_770delinsGC ;(p.I257A)
Variant ID: 2-179664358-AT-GC
NM_001267550.1(
TTN
):c.769_770delinsGC;(p.I257A)
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:
Function of the M1 π-helix in endplate receptor activation and desensitization.
The Journal Of Physiology
Purohit, Prasad P; Chakraborty, Srirupa S; Auerbach, Anthony A
Publication Date: 2015-07-01
Variant appearance in text: TMD: I257A
PubMed Link:
25929452
Variant Present in the following documents:
Main text
View BVdb publication page