Varaico: Literature-Extracted Genetic Variants

Gene:SOD1
Variant:p.S135G
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SOD1

NM_000454.5:p.S135G

Associated Papers

Genetic variability in sporadic amyotrophic lateral sclerosis.

Van Daele SH et al.

Brain : a Journal of Neurology, 2023

37043475 (PubMed )
Supplement: awad120_supplementary_data.zip › brain-2022-02191-File008.xlsx › suppl_table_6_P_LP

The HFE p.H63D (p.His63Asp) Polymorphism Is a Modifier of ALS Outcome in Italian and French Patients with SOD1 Mutations.

Canosa A et al.

Biomedicines, 2023

SOD-1 Variants in Amyotrophic Lateral Sclerosis: Systematic Re-Evaluation According to ACMG-AMP Guidelines.

Ruffo P et al.

Genes, 2022

Comprehensive in silico analysis and molecular dynamics of the superoxide dismutase 1 (SOD1) variants related to amyotrophic lateral sclerosis.

Pereira GRC et al.

Plos One, 2021

33630959 (PubMed )
Supplement: pone.0247841.s001.docx

The NGS technology for the identification of genes associated with the ALS. A systematic review.

Pecoraro V et al.

European Journal of Clinical Investigation, 2020

Younger age of onset in familial amyotrophic lateral sclerosis is a result of pathogenic gene variants, rather than ascertainment bias.

Mehta PR et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2019

Aproximación genética en la esclerosis lateral amiotrófica.

Cervantes-Aragón I et al.

Gaceta Medica De Mexico, 2019

Genetic approach in amyotrophic lateral sclerosis.

Cervantes-Aragón I et al.

Gaceta Medica De Mexico, 2019

A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK.

Morgan S et al.

Brain : a Journal of Neurology, 2017

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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."