Varaico: Literature-Extracted Genetic Variants

Gene:SOD2
Variant:p.D30V
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SOD2

NM_000636.4:p.D30V

Associated Papers

Variation of genes encoding nitric oxide synthases and antioxidant enzymes as potential risks of multiple sclerosis development: a preliminary study.

Wigner P et al.

Scientific Reports, 2022

The catalase gene promoter and 5'-untranslated region variants lead to altered gene expression and enzyme activity in vitiligo.

Mansuri MS et al.

The British Journal of Dermatology, 2017

Human catalase, its polymorphisms, regulation and changes of its activity in different diseases.

Kodydková J et al.

Folia Biologica, 2014

Catalase polymorphisms and metabolic diseases.

Hebert-Schuster M et al.

Current Opinion in Clinical Nutrition and Metabolic Care, 2012

Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes.

Andersen PM et al.

Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders : Official Publication of the World Federation of Neurology, Research Group on Motor Neuron Diseases, 2003

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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."