Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ16
Variant:p.R137C
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KCNJ16

NM_170741.4:p.R137C

Associated Papers

Novel KCNJ16 variants identified in a Chinese patient with hypokalemic metabolic acidosis.

Chen J et al.

Molecular Genetics & Genomic Medicine, 2023

Kir5.1 channels: potential role in epilepsy and seizure disorders.

Staruschenko A et al.

American Journal of Physiology. Cell Physiology, 2022

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

EAST/SeSAME Syndrome and Beyond: The Spectrum of Kir4.1- and Kir5.1-Associated Channelopathies.

Lo J et al.

Frontiers in Physiology, 2022

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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."