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TTN c.3679_3680delinsGC ;(p.K1227A)
Variant ID: 2-179644776-TT-GC
NM_001267550.1(
TTN
):c.3679_3680delinsGC;(p.K1227A)
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:
Autoinhibition and activation mechanisms of the eukaryotic lipid flippase Drs2p-Cdc50p.
Nature Communications
Bai, Lin L; Kovach, Amanda A; You, Qinglong Q; Hsu, Hao-Chi HC; Zhao, Gongpu G; Li, Huilin H
Publication Date: 2019-09-12
Variant appearance in text: TMD: K1227A
PubMed Link:
31515475
Variant Present in the following documents:
Main text
41467_2019_Article_12191.pdf
View BVdb publication page