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KCNQ1 c.955_956inv ;(p.V319T)
Variant ID: 11-2604698-GT-AC
NM_000218.2(
KCNQ1
):c.955_956inv;(p.V319T)
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:
Determinants within the turret and pore-loop domains of KCNQ3 K+ channels governing functional activity.
Biophysical Journal
Zaika, Oleg O; Hernandez, Ciria C CC; Bal, Manjot M; Tolstykh, Gleb P GP; Shapiro, Mark S MS
Publication Date: 2008-12
Variant appearance in text: KCNQ1: V319T
PubMed Link:
18790849
Variant Present in the following documents:
Main text
View BVdb publication page