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KCNK1 c.748_749delinsCT ;(p.T250L)
Variant ID: 1-233802733-AC-CT
NM_002245.3(
KCNK1
):c.748_749delinsCT;(p.T250L)
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:
Altered and dynamic ion selectivity of K+ channels in cell development and excitability.
Trends In Pharmacological Sciences
Chen, Haijun H; Chatelain, Franck C FC; Lesage, Florian F
Publication Date: 2014-09
Variant appearance in text: TWIK-1: T250L
PubMed Link:
25023607
Variant Present in the following documents:
Main text
View BVdb publication page