Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ10
Variant:p.C294Y
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KCNJ10

NM_002241.5:p.C294Y

Associated Papers

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

Rare Missense Variants in KCNJ10 Are Associated with Paroxysmal Kinesigenic Dyskinesia.

Wirth T et al.

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

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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."