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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KCNJ10

Variant:p.R175W

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KCNJ10

NM_002241.5:p.R175W

hg38:chr1:160042010 G>A

Associated Papers

Rare Variant Burden and Behavioral Phenotypes in Children with Autism in Slovakia.

Repiská G et al.

Genes, 2025

40869941 (PubMed )

Supplement: genes-16-00893-s001.zip › File_S1.xlsx › suplement

Heterozygous Variants in KCNJ10 Cause Paroxysmal Kinesigenic Dyskinesia Via Haploinsufficiency.

Li YL et al.

Annals of Neurology, 2024

38979912 (PubMed )

Supplement: supplement_1.docx

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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."