Varaico: Literature-Extracted Genetic Variants

Gene:SPTLC1
Variant:p.V144A
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SPTLC1

NM_006415.4:p.V144A

Associated Papers

HSAN1 mutations in serine palmitoyltransferase reveal a close structure-function-phenotype relationship.

Bode H et al.

Human Molecular Genetics, 2016

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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."