Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ6
Variant:p.T152del1
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KCNJ6

NM_002240.5:p.T152del1

Associated Papers

A novel ion conducting route besides the central pore in an inherited mutant of G-protein-gated inwardly rectifying K+ channel.

Chen IS et al.

The Journal of Physiology, 2022

Intellectual Disability and Potassium Channelopathies: A Systematic Review.

Kessi M et al.

Frontiers in Genetics, 2020

Gain-of-function KCNJ6 Mutation in a Severe Hyperkinetic Movement Disorder Phenotype.

Horvath GA et al.

Neuroscience, 2018

Keppen-Lubinsky syndrome is caused by mutations in the inwardly rectifying K+ channel encoded by KCNJ6.

Masotti A et al.

American Journal of Human Genetics, 2015

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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."