Varaico: Literature-Extracted Genetic Variants

Gene:SARM1
Variant:p.L223P
Back to variants list

SARM1

NM_015077.4:p.L223P

Associated Papers

SARM1-Dependent Axon Degeneration: Nucleotide Signaling, Neurodegenerative Disorders, Toxicity, and Therapeutic Opportunities.

McGuinness HY et al.

The Neuroscientist : a Review Journal Bringing Neurobiology, Neurology and Psychiatry, 2024

Constitutively active SARM1 variants that induce neuropathy are enriched in ALS patients.

Bloom AJ et al.

Molecular Neurodegeneration, 2022

Enrichment of SARM1 alleles encoding variants with constitutively hyperactive NADase in patients with ALS and other motor nerve disorders.

Gilley J et al.

Elife, 2021

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."