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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SPTLC2

Variant:p.T66R

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SPTLC2

NM_004863.4:p.T66R

hg38:chr14:77597316 G>C

Associated Papers

Characterization of novel and recurrent SPTLC2 variants in childhood-onset amyotrophic lateral sclerosis: Insights into sphingolipid dysregulation.

Fu X et al.

Journal of Neuromuscular Diseases, 2025

40849231 (PubMed )

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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."