Varaico: Literature-Extracted Genetic Variants

Gene:SOD1
Variant:p.G142R
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SOD1

NM_000454.5:p.G142R

Associated Papers

Multifaceted superoxide dismutase 1 expression in amyotrophic lateral sclerosis patients: a rare occurrence?

Martinelli I et al.

Neural Regeneration Research, 2025

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 landscape of cognitive impairment in superoxide dismutase 1-amyotrophic lateral sclerosis.

Martinelli I et al.

Neural Regeneration Research, 2023

36571338 (PubMed )
Supplement: NRR-18-1427_Suppl2.pdf

The Role of Superoxide Dismutase 1 in Amyotrophic Lateral Sclerosis: Identification of Signaling Pathways, Regulators, Molecular Interaction Networks, and Biological Functions through Bioinformatics.

Suthar SK et al.

Brain Sciences, 2023

36672132 (PubMed )
Supplement: brainsci-13-00151-s001.zip › brainsci-2094474-supplementary.pdf

Characterising the Genetic Landscape of Amyotrophic Lateral Sclerosis: A Catalogue and Assessment of Over 1,000 Published Genetic Variants.

McCann EP et al.

Journal of Neuromuscular Diseases, 2023

37638449 (PubMed )
Supplement: jnd-10-jnd230148-s001.xlsx › variant_list

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

Screening for possible oligogenic pathogenesis in Chinese sporadic ALS patients.

Zhang H et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2018

When does ALS start? A novel SOD-1 p.Gly142Arg mutation causing motor neurone disease with prominent premorbid cramps and spasms.

Ioannides ZA et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 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."