Varaico: Literature-Extracted Genetic Variants

Gene:SPTLC1
Variant:p.K126N
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SPTLC1

NM_006415.4:p.K126N

Associated Papers

Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis.

Johnson JO et al.

Jama Neurology, 2021

34459874 (PubMed )
Supplement: jamaneurol-e212598-s001.pdf
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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."