Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ10
Variant:p.G83V
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KCNJ10

NM_002241.5:p.G83V

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

Expanding the genotypic and phenotypic spectrum of EAST/SeSAME syndrome: identification of a novel homozygous mutation (c.194 G > A) in KCNJ10 gene.

Yari A et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025

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

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

Lo J et al.

Frontiers in Physiology, 2022

Role and mechanisms of regulation of the basolateral Kir 4.1/Kir 5.1K+ channels in the distal tubules.

Palygin O et al.

Acta Physiologica (oxford, England), 2017

Novel KCNJ10 Gene Variations Compromise Function of Inwardly Rectifying Potassium Channel 4.1.

Méndez-González MP et al.

The Journal of Biological Chemistry, 2016

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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."