Varaico: Literature-Extracted Genetic Variants

Gene:SPTLC2
Variant:p.Q50*
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SPTLC2

NM_004863.4:p.Q50*

Associated Papers

Human genetic defects of sphingolipid synthesis.

Dubot P et al.

Journal of Inherited Metabolic Disease, 2025

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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."