Varaico: Literature-Extracted Genetic Variants

Gene:SPTLC2
Variant:p.I491F
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SPTLC2

NM_004863.4:p.I491F

Associated Papers

Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I.

Rotthier A et al.

American Journal of Human Genetics, 2010

Mutations in the Lcb2p subunit of serine palmitoyltransferase eliminate the requirement for the TSC3 gene in Saccharomyces cerevisiae.

Monaghan E et al.

Yeast (chichester, England), 2002

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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."