Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SPTLC1

Variant:p.A20T

Back to variants list

SPTLC1

NM_006415.4:p.A20T

hg38:chr9:92112562 C>T

Associated Papers

Genetic and functional analyses of SPTLC1 in juvenile amyotrophic lateral sclerosis.

Okubo S et al.

Journal of Neurology, 2024

39666121 (PubMed )

Clinical feature difference between juvenile amyotrophic lateral sclerosis with SPTLC1 and FUS mutations.

Wang P et al.

Chinese Medical Journal, 2023

36801857 (PubMed )

Select a paper to view details

UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."