Varaico: Literature-Extracted Genetic Variants

Gene:ALS2
Variant:p.V1574fs
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ALS2

NM_020919.4:p.V1574fs

Associated Papers

A systematic review and functional in-silico analysis of genes and variants associated with amyotrophic lateral sclerosis.

Arreola-Aldape CA et al.

Frontiers in Neuroscience, 2025

40589786 (PubMed )
Supplement: Table_4.xlsx › ClinVar_filtered_variants

ALS2/alsin knockout mice and motor neuron diseases.

Cai H et al.

Neuro-degenerative Diseases, 2008

Progressive spinal axonal degeneration and slowness in ALS2-deficient mice.

Yamanaka K et al.

Annals of Neurology, 2006

Alsin/Rac1 signaling controls survival and growth of spinal motoneurons.

Jacquier A et al.

Annals of Neurology, 2006

Novel missense mutation in ALS2 gene results in infantile ascending hereditary spastic paralysis.

Eymard-Pierre E et al.

Annals of Neurology, 2006

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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."