Varaico: Literature-Extracted Genetic Variants

Gene:WNK1
Variant:p.G307insFs
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WNK1

NM_018979.4:p.G307insFs

Associated Papers

A novel homozygous mutation in the WNK1/HSN2 gene causing hereditary sensory neuropathy type 2.

Potulska-Chromik A et al.

Acta Biochimica Polonica, 2012

Carriers of recessive WNK1/HSN2 mutations for hereditary sensory and autonomic neuropathy type 2 (HSAN2) are more sensitive to thermal stimuli.

Loggia ML et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2009

Hereditary ataxia, spastic paraparesis and neuropathy in the French-Canadian population.

Dupré N et al.

The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2006

Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the Study of Canadian Genetic Isolates.

Lafreniere RG et al.

American Journal of Human Genetics, 2004

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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."