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KCNQ1 c.740_741delinsTG ;(p.T247M)
Variant ID: 11-2593299-CC-TG
NM_000218.2(
KCNQ1
):c.740_741delinsTG;(p.T247M)
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:
The Emergence of Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes (hiPSC-CMs) as a Platform to Model Arrhythmogenic Diseases.
International Journal Of Molecular Sciences
Pourrier, Marc M; Fedida, David D
Publication Date: 2020-01-19
Variant appearance in text: KCNQ1: T247M
PubMed Link:
31963859
Variant Present in the following documents:
Main text
ijms-21-00657.pdf
View BVdb publication page