Varaico: Literature-Extracted Genetic Variants

Gene:SPTLC1
Variant:p.K126K
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SPTLC1

NM_006415.4:p.K126K

Associated Papers

A systematic comparison of all mutations in hereditary sensory neuropathy type I (HSAN I) reveals that the G387A mutation is not disease associated.

Hornemann T et al.

Neurogenetics, 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."