Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A6
Variant:p.P373Splc
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SLC12A6

NM_001365088.1:p.P373Splc

Associated Papers

A new splice-site mutation in SLC12A6 causing Andermann syndrome with motor neuronopathy.

Akçakaya NH et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2018

Andermann syndrome can be a phenocopy of hereditary motor and sensory neuropathy--report of a discordant sibship with a compound heterozygous mutation of the KCC3 gene.

Rudnik-Schöneborn S et al.

Neuropediatrics, 2009

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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."