Varaico: Literature-Extracted Genetic Variants

Gene:WNK1
Variant:p.D635N
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WNK1

NM_018979.4:p.D635N

Associated Papers

Familial Hyperkalemic Hypertension.

Cornelius RJ et al.

Comprehensive Physiology, 2024

A Spanish Family with Gordon Syndrome Due to a Variant in the Acidic Motif of WNK1.

Peces R et al.

Genes, 2023

Assessing the clinical utility of protein structural analysis in genomic variant classification: experiences from a diagnostic laboratory.

Caswell RC et al.

Genome Medicine, 2022

A rare case of persistent hyperkalaemia.

Lewis T et al.

Annals of Clinical Biochemistry, 2021

Mutation affecting the conserved acidic WNK1 motif causes inherited hyperkalemic hyperchloremic acidosis.

Louis-Dit-Picard H et al.

The Journal of Clinical Investigation, 2020

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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."