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Article

Characterization of a novel variant in KCNJ16, encoding Kir5.1 channel.

Physiological reports - 1 Oct 2024

Xu Biyang, Levchenko Vladislav, Bohovyk Ruslan, Ahrari Ameneh, Geurts Aron M, Sency Valerie, Xin Baozhong, Wang Heng, Staruschenko Alexander

Abstract excerpt

The essential role of the inwardly rectifying potassium channel Kir5.1 (KCNJ16) in controlling electrolyte homeostasis and blood pressure has been demonstrated in human and animal studies. Previous studies have identified several bi-allelic mutations of KCNJ16 in humans, causing severe hypokalemia, renal salt wasting, and disturbed acid-base homeostasis. Here, we identified a novel homozygous variant of KCNJ16,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39414394
DOI: 10.14814/phy2.70083
PMCID: PMC11483507

Genes

KCNJ16

Variants

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