Varaico: Literature-Extracted Genetic Variants

Gene:SOD1
Variant:p.D125fs
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SOD1

NM_000454.5:p.D125fs

Associated Papers

Variability in SOD1-associated amyotrophic lateral sclerosis: geographic patterns, clinical heterogeneity, molecular alterations, and therapeutic implications.

Huang M et al.

Translational Neurodegeneration, 2024

The molecular pathogenesis of superoxide dismutase 1-linked ALS is promoted by low oxygen tension.

Keskin I et al.

Acta Neuropathologica, 2019

Comprehensive analysis to explain reduced or increased SOD1 enzymatic activity in ALS patients and their relatives.

Keskin I et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2017

28325066 (PubMed )
Supplement: supplement_1.docx

Effects of Cellular Pathway Disturbances on Misfolded Superoxide Dismutase-1 in Fibroblasts Derived from ALS Patients.

Keskin I et al.

Plos One, 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."