Varaico: Literature-Extracted Genetic Variants

Gene:C6
Variant:p.G85R
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C6

NM_000065.5:p.G85R

Associated Papers

In-cell NMR reveals potential precursor of toxic species from SOD1 fALS mutants.

Luchinat E et al.

Nature Communications, 2014

Decreased stability and increased formation of soluble aggregates by immature superoxide dismutase do not account for disease severity in ALS.

Vassall KA et al.

Proceedings of the National Academy of Sciences of the United States of America, 2011

Different regulation of wild-type and mutant Cu,Zn superoxide dismutase localization in mammalian mitochondria.

Kawamata H et al.

Human Molecular Genetics, 2008

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."