Varaico: Literature-Extracted Genetic Variants

Gene:SPTLC2
Variant:p.G435V
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SPTLC2

NM_004863.4:p.G435V

Associated Papers

Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies.

Lischka A et al.

Brain : a Journal of Neurology, 2023

37769650 (PubMed )
Supplement: awad328_supplementary_data.zip › brain-2023-00799-File006.xlsx › Tabelle1

Loss of Neurological Disease HSAN-I-Associated Gene SPTLC2 Impairs CD8+ T Cell Responses to Infection by Inhibiting T Cell Metabolic Fitness.

Wu J et al.

Immunity, 2019

Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation.

Bacquet J et al.

Bmj Open, 2018

Unraveling the multifaceted insights into amyotrophic lateral sclerosis: Genetic underpinnings, pathogenesis, and therapeutic horizons.

Sharma R et al.

Mutation Research. Reviews in Mutation Research, 0

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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."