Varaico: Literature-Extracted Genetic Variants

Gene:SARM1
Variant:p.K193R
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SARM1

NM_015077.4:p.K193R

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

Neurotoxin-mediated potent activation of the axon degeneration regulator SARM1.

Loreto A et al.

Elife, 2021

SARM1 is required in human derived sensory neurons for injury-induced and neurotoxic axon degeneration.

Chen YH et al.

Experimental Neurology, 2021

SARM1 is a metabolic sensor activated by an increased NMN/NAD+ ratio to trigger axon degeneration.

Figley MD et al.

Neuron, 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."