Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ1
Variant:p.P166S
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KCNJ1

NM_153766.3:p.P166S

Associated Papers

Phenotype of Idiopathic Infantile Hypercalcemia Associated with the Heterozygous Pathogenic Variant of SLC34A1 and CYP24A1.

Bizerea-Moga TO et al.

Children (basel, Switzerland), 2023

Kidney ion handling genes and their interaction in blood pressure control.

An C et al.

Bioscience Reports, 2022

The Post-Translational Modification Networking in WNK-Centric Hypertension Regulation and Electrolyte Homeostasis.

Lin SC et al.

Biomedicines, 2022

Contributions of rare coding variants in hypotension syndrome genes to population blood pressure variation.

Nandakumar P et al.

Medicine, 2018

30113482 (PubMed )
Supplement: medi-97-e11865-s001.pdf

Hypertension resistance polymorphisms in ROMK (Kir1.1) alter channel function by different mechanisms.

Fang L et al.

American Journal of Physiology. Renal Physiology, 2010

Rare independent mutations in renal salt handling genes contribute to blood pressure variation.

Ji W et al.

Nature Genetics, 2008

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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."