Varaico: Literature-Extracted Genetic Variants

Gene:NOS1
Variant:p.L31L
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NOS1

NM_000620.5:p.L31L

Associated Papers

Exploring dysregulated miRNAs in ALS: implications for disease pathogenesis and early diagnosis.

Maity D et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025

Analysis of the cytosolic proteome in a cell culture model of familial amyotrophic lateral sclerosis reveals alterations to the proteasome, antioxidant defenses, and nitric oxide synthetic pathways.

Allen S et al.

The Journal of Biological Chemistry, 2003

Disease mechanisms revealed by transcription profiling in SOD1-G93A transgenic mouse spinal cord.

Olsen MK et al.

Annals of Neurology, 2001

Superoxide dismutase-1 mutation-related neurotoxicity in familial amyotrophic lateral sclerosis.

Shibata N et al.

Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders : Official Publication of the World Federation of Neurology, Research Group on Motor Neuron Diseases, 2000

Partial deficiency of manganese superoxide dismutase exacerbates a transgenic mouse model of amyotrophic lateral sclerosis.

Andreassen OA et al.

Annals of Neurology, 2000

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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."