Varaico: Literature-Extracted Genetic Variants

Gene:UBB
Variant:p.E100G
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UBB

NM_018955.4:p.E100G

Associated Papers

Genetic approach in amyotrophic lateral sclerosis.

Cervantes-Aragón I et al.

Gaceta Medica De Mexico, 2019

Distinctive clinicopathological features of 2 large families with amyotrophic lateral sclerosis having L106V mutation in SOD1 gene.

Hineno A et al.

Journal of the Neurological Sciences, 2012

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

Shaw BF et al.

Trends in Biochemical Sciences, 2007

Superoxide dismutase-1 mutation-related neurotoxicity in familial amyotrophic lateral sclerosis.

Shibata N et al.

Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders : Official Publication of the World Federation of Neurology, Research Group on Motor Neuron Diseases, 2000

Familial amyotrophic lateral sclerosis with a mutation in exon 4 of the Cu/Zn superoxide dismutase gene: pathological and immunocytochemical changes.

Ince PG et al.

Acta Neuropathologica, 1996

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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."