Varaico: Literature-Extracted Genetic Variants

Gene:WNK1
Variant:p.G213delFs
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WNK1

NM_018979.4:p.G213delFs

Associated Papers

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

The Complex Clinical and Genetic Landscape of Hereditary Peripheral Neuropathy.

Ghosh S et al.

Annual Review of Pathology, 2021

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

Yuan JH et al.

Clinical Genetics, 2017

[Mutations in the HSN2 exon of WNK1 cause hereditary sensory neuropathy type II].

Rivière JB et al.

Medecine Sciences : M/s, 2009

Mutations in the nervous system--specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type II.

Shekarabi M et al.

The Journal of Clinical Investigation, 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."