Varaico: Literature-Extracted Genetic Variants

Gene:SARM1
Variant:p.P332Q
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SARM1

NM_015077.4:p.P332Q

Associated Papers

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

Mutation in TMEM98 in a large white kindred with autosomal dominant nanophthalmos linked to 17p12-q12.

Awadalla MS et al.

Jama Ophthalmology, 2014

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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."