Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.C133W
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SETX

NM_015046.7:p.C133W

Associated Papers

Early-onset severe hereditary sensory and autonomic neuropathy type 1 with S331F SPTLC1 mutation.

Suh BC et al.

Molecular Medicine Reports, 2014

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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."