Varaico: Literature-Extracted Genetic Variants

Gene:WNK1
Variant:p.D531fs
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WNK1

NM_018979.4:p.D531fs

Associated Papers

Hereditary Sensory and Autonomic Neuropathy Type 2: A Case Report and a Review of the Literature.

Ragucci C et al.

Brain Sciences, 2025

A novel mutation in the WNK1/HSN2 gene causing hereditary sensory and autonomic neuropathy type 2 in Chinese patient.

Ma S et al.

Journal of Human Genetics, 2025

A novel biallelic single base insertion in WNK1 in a Pakistani family with congenital insensitivity to pain.

Pastore S et al.

Journal of Human Genetics, 2020

WNK1/HSN2 founder mutation in patients with hereditary sensory and autonomic neuropathy: A Japanese cohort study.

Yuan JH et al.

Clinical Genetics, 2017

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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."