Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ10
Variant:p.P352T
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KCNJ10

NM_002241.5:p.P352T

Associated Papers

Clinical and Genetic Characteristics of Paroxysmal Kinesigenic Dyskinesia: A Single-Center Study and Literature Review.

Li M et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2026

Determinants of trafficking, conduction, and disease within a K+ channel revealed through multiparametric deep mutational scanning.

Coyote-Maestas W et al.

Elife, 2022

35639599 (PubMed )
Supplement: elife-76903-data1.zip › SourceData › input_data › KCNJ_Clinvar_0325322_edited_annotations_.xlsx › clinvar_KCNJx_0325322

Next-generation sequencing-based mutation analysis of genes associated with enlarged vestibular aqueduct in Chinese families.

Liu Y et al.

European Archives of Oto-rhino-laryngology : Official Journal of the European Federation of Oto-rhino-laryngological Societies (eufos) : Affiliated With the German Society for Oto-rhino-laryngology - Head and Neck Surgery, 2020

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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."