Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ8
Variant:p.A88G
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KCNJ8

NM_004982.4:p.A88G

Associated Papers

Genetic Variants in Potassium Channel Genes and Their Clinical Implications in Kazakhstani Patients with Cardiac Arrhythmias.

Chamoieva A et al.

Journal of Personalized Medicine, 2026

Dissecting genetic architecture of rare dystonia: genetic, molecular and clinical insights.

Atasu B et al.

Journal of Medical Genetics, 2024

38458754 (PubMed )
Supplement: jmg-2022-109099supp001.pdf

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

Workflow for the Implementation of Precision Genomics in Healthcare.

Mehandziska S et al.

Frontiers in Genetics, 2020

32695137 (PubMed )
Supplement: Data_Sheet_2.XLSX › Potentially_pathogenic_VUS

High prevalence of concealed Brugada syndrome in patients with atrioventricular nodal reentrant tachycardia.

Hasdemir C et al.

Heart Rhythm, 2015

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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."