Varaico: Literature-Extracted Genetic Variants

Gene:SOD1
Variant:p.M1insFs
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SOD1

NM_000454.5:p.M1insFs

Associated Papers

Novel in-frame duplication variant of SOD1 in a Japanese family with familial amyotrophic lateral sclerosis.

Nakajima M et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2025

High-Throughput Genetic Testing in ALS: The Challenging Path of Variant Classification Considering the ACMG Guidelines.

Lattante S et al.

Genes, 2020

32987860 (PubMed )
Supplement: genes-11-01123-s001.zip › Supplementary_Table_I.xlsx › Variant_list

High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis.

Corrado L et al.

Human Mutation, 2009

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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."