Varaico: Literature-Extracted Genetic Variants

Gene:SOD1
Variant:p.R144C
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SOD1

NM_000454.5:p.R144C

Associated Papers

Landscapes of missense variant impact for human superoxide dismutase 1.

Axakova A et al.

American Journal of Human Genetics, 2025

40957416 (PubMed )
Supplement: mmc2.xlsx › ClinVarVariants_LLRps

Landscapes of missense variant impact for human superoxide dismutase 1.

Axakova A et al.

Biorxiv : the Preprint Server for Biology, 2025

40060668 (PubMed )
Supplement: media-2.xlsx › ClinVar_ReferenceSet

SOD1-related inherited peripheral neuropathies in a Japanese cohort: genetic variants and clinical insights.

Ando M et al.

Journal of Neurology, 2025

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

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

33244158 (PubMed )
Supplement: 41598_2020_77716_MOESM1_ESM.xlsx › Supplementary_Table_S1
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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."