Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ10
Variant:p.L68P
Back to variants list

KCNJ10

NM_002241.5:p.L68P

Associated Papers

Clinical and Genetic Characteristics of Paroxysmal Kinesigenic Dyskinesia: A Single-Center Study and Literature Review.

Li M et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2026

Heterozygous KCNJ10 Variants Affecting Kir4.1 Channel Cause Paroxysmal Kinesigenic Dyskinesia.

Huang X et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2024

Heterozygous Variants in KCNJ10 Cause Paroxysmal Kinesigenic Dyskinesia Via Haploinsufficiency.

Li YL et al.

Annals of Neurology, 2024

Inward rectifier potassium (Kir) channels in the retina: living our vision.

Beverley KM et al.

American Journal of Physiology. Cell Physiology, 2022

EAST/SeSAME Syndrome and Beyond: The Spectrum of Kir4.1- and Kir5.1-Associated Channelopathies.

Lo J et al.

Frontiers in Physiology, 2022

Application of next-generation sequencing technologies in Neurology.

Jiang T et al.

Annals of Translational Medicine, 2014

KCNJ10 may not be a contributor to nonsyndromic enlargement of vestibular aqueduct (NSEVA) in Chinese subjects.

Zhao J et al.

Plos One, 2014

Targeted next generation sequencing as a diagnostic tool in epileptic disorders.

Lemke JR et al.

Epilepsia, 2012

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."