Varaico: Literature-Extracted Genetic Variants

Gene:SNCA
Variant:p.L38V
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SNCA

NM_000345.4:p.L38V

Associated Papers

Loss of metal ions, disulfide reduction and mutations related to familial ALS promote formation of amyloid-like aggregates from superoxide dismutase.

Oztug Durer ZA et al.

Plos One, 2009

Protein aggregation and protein instability govern familial amyotrophic lateral sclerosis patient survival.

Wang Q et al.

Plos Biology, 2008

How do ALS-associated mutations in superoxide dismutase 1 promote aggregation of the protein?

Shaw BF et al.

Trends in Biochemical Sciences, 2007

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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."