Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A6
Variant:p.L808*
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SLC12A6

NM_001365088.1:p.L808*

Associated Papers

Transit defect of potassium-chloride Co-transporter 3 is a major pathogenic mechanism in hereditary motor and sensory neuropathy with agenesis of the corpus callosum.

Salin-Cantegrel A et al.

The Journal of Biological Chemistry, 2011

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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."