Varaico: Literature-Extracted Genetic Variants

Gene:SOX10
Variant:p.F292delFs
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SOX10

NM_006941.4:p.F292delFs

Associated Papers

A novel case of concurrent occurrence of demyelinating-polyneuropathy-causing PMP22 duplication and SOX10 gene mutation producing severe hypertrophic neuropathy.

Matsuda N et al.

Bmc Neurology, 2021

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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."