Varaico: Literature-Extracted Genetic Variants

Gene:SOD1
Variant:p.G13_I18ins2
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SOD1

NM_000454.5:p.G13_I18ins2

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

Phenotypic Characterization of ALS-Causing SOD1 Mutations Affecting Polypeptide Length.

Berdyński M et al.

Human Mutation, 2025

40551967 (PubMed )
Supplement: 9792233.f1.docx
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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."