Varaico: Literature-Extracted Genetic Variants

Gene:SARM1
Variant:p.R569C
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SARM1

NM_015077.4:p.R569C

Associated Papers

Natural variants of human SARM1 cause both intrinsic and dominant loss-of-function influencing axon survival.

Ademi M et al.

Scientific Reports, 2022

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

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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."