Varaico: Literature-Extracted Genetic Variants

Gene:SOD1
Variant:p.L145Fs
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SOD1

NM_000454.5:p.L145Fs

Associated Papers

A genome-wide association study identifies the GPM6A locus associated with age at onset in ALS.

Nakamura R et al.

Communications Biology, 2025

41350806 (PubMed )
Supplement: 42003_2025_9168_MOESM1_ESM.pdf

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

Berdyński M et al.

Human Mutation, 2025

40551967 (PubMed )
Supplement: 9792233.f1.docx

Premature termination codons in SOD1 causing Amyotrophic Lateral Sclerosis are predicted to escape the nonsense-mediated mRNA decay.

Guissart C et al.

Scientific Reports, 2020

Genotype-phenotype relationship in hereditary amyotrophic lateral sclerosis.

Yamashita S et al.

Translational Neurodegeneration, 2015

26213621 (PubMed )
Supplement: 40035_2015_36_MOESM1_ESM.xlsx › Sheet1
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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."