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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KCNJ10

Variant:p.Q295*

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KCNJ10

NM_002241.5:p.Q295*

hg38:chr1:160041650 G>A

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

39367724 (PubMed )

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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."