Varaico: Literature-Extracted Genetic Variants

Gene:SPTLC2
Variant:p.A71V
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SPTLC2

NM_004863.4:p.A71V

Associated Papers

SPTLC2 variants are associated with early-onset ALS and FTD due to aberrant sphingolipid synthesis.

Naruse H et al.

Annals of Clinical and Translational Neurology, 2024

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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."