Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ16
Variant:p.K48*
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KCNJ16

NM_170741.4:p.K48*

Associated Papers

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

Chen J et al.

Molecular Genetics & Genomic Medicine, 2023

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

Lo J et al.

Frontiers in Physiology, 2022

Biallelic loss-of-function variants in KCNJ16 presenting with hypokalemic metabolic acidosis.

Webb BD et al.

European Journal of Human Genetics : Ejhg, 2021

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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."