Varaico: Literature-Extracted Genetic Variants

Gene:SOD1
Variant:p.C147Y
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SOD1

NM_000454.5:p.C147Y

Associated Papers

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 › abundance_map_scores_LLRps

Clinical and genetic characteristics of 1672 cases of amyotrophic lateral sclerosis in China: a single-center retrospective study.

Shen D et al.

Journal of Neurology, 2024

[Screening of mutations in SOD1 gene and analysis of genotype-phenotype correlation in Chinese patients with amyotrophic lateral sclerosis].

Niu YF et al.

Yi Chuan = Hereditas, 2011

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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."