Varaico: Literature-Extracted Genetic Variants

Gene:SOD1
Variant:p.R80Splc
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SOD1

NM_000454.5:p.R80Splc

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

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

The distinct manifestation of young-onset amyotrophic lateral sclerosis in China.

Lin J et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2021

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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."