Varaico: Literature-Extracted Genetic Variants

Gene:ALS2
Variant:p.P132L
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ALS2

NM_020919.4:p.P132L

Associated Papers

Bridging pleiotropic mechanisms in leprosy type-1 reactions and neurodegenerative diseases.

Fava VM et al.

Scientific Reports, 2025

41430073 (PubMed )
Supplement: 41598_2025_30734_MOESM2_ESM.xlsx › Variants

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_query_results

Altered oligomeric states in pathogenic ALS2 variants associated with juvenile motor neuron diseases cause loss of ALS2-mediated endosomal function.

Sato K et al.

The Journal of Biological Chemistry, 2018

Identification of mutations in Korean patients with amyotrophic lateral sclerosis using multigene panel testing.

Kim HJ et al.

Neurobiology of Aging, 2016

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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."