Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ10
Variant:p.V186A
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KCNJ10

NM_002241.5:p.V186A

Associated Papers

Heterozygous Variants in KCNJ10 Cause Paroxysmal Kinesigenic Dyskinesia Via Haploinsufficiency.

Li YL et al.

Annals of Neurology, 2024

[Clinical features and genetic analysis of a child with EAST/SeSAME syndrome].

Zhang G et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2023

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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."