Varaico: Literature-Extracted Genetic Variants

Gene:SPTLC1
Variant:p.F40L
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SPTLC1

NM_006415.4:p.F40L

Associated Papers

ANKK1, ANKRD50, GRK5, PACSIN1 and VPS8 are novel candidate genes associated with late onset Parkinson's disease: Definition of a novel predictive protocol based on polygenic model of inheritance.

Carrillo F et al.

Neurobiology of Disease, 2025

A de novo c.113 T > C: p.L38R mutation of SPTLC1: case report of a girl with sporadic juvenile amyotrophic lateral sclerosis.

Liu X et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2022

Hypomorphic variants of cationic amino acid transporter 3 in males with autism spectrum disorders.

Nava C et al.

Amino Acids, 2015

26215737 (PubMed )
Supplement: 726_2015_2057_MOESM2_ESM.xlsx › Sup_Table_3
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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."