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KCNH5 c.1054C>G ;(p.L352V)
Variant ID: 14-63417166-G-C
NM_139318.4(
KCNH5
):c.1054C>G;(p.L352V)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Potassium Channel Gain of Function in Epilepsy: An Unresolved Paradox.
The Neuroscientist : A Review Journal Bringing Neurobiology, Neurology And Psychiatry
Niday, Zachary Z; Tzingounis, Anastasios V AV
Publication Date: 2018-08
Variant appearance in text: KCNH5: L352V
PubMed Link:
29542386
Variant Present in the following documents:
Main text
View BVdb publication page
Eag1 K+ Channel: Endogenous Regulation and Functions in Nervous System.
Oxidative Medicine And Cellular Longevity
Han, Bo B; Tokay, Tursonjan T; Zhang, Guangming G; Sun, Peng P; Hou, Shangwei S
Publication Date: 2017
Variant appearance in text: Kv10.2: Leu352Val
PubMed Link:
28367272
Variant Present in the following documents:
OMCL2017-7371010.pdf
View BVdb publication page