Varaico: Literature-Extracted Genetic Variants

Gene:SOD1
Variant:p.I114V
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SOD1

NM_000454.5:p.I114V

Associated Papers

Targeting mitophagy in neurodegenerative diseases.

Antico O et al.

Nature Reviews. Drug Discovery, 2025

VCP mutations are not a major cause of familial amyotrophic lateral sclerosis in the UK.

Kwok CT et al.

Journal of the Neurological Sciences, 2015

Genotype-phenotype relationship in hereditary amyotrophic lateral sclerosis.

Yamashita S et al.

Translational Neurodegeneration, 2015

26213621 (PubMed )
Supplement: 40035_2015_36_MOESM1_ESM.xlsx › Sheet1

[A patient with familial amyotrophic lateral sclerosis associated with a new valosin-containing protein (VCP) gene mutation].

Segawa M et al.

Rinsho Shinkeigaku = Clinical Neurology, 2015

Novel mutation in VCP gene causes atypical amyotrophic lateral sclerosis.

González-Pérez P et al.

Neurology, 2012

VCP mutations in familial and sporadic amyotrophic lateral sclerosis.

Koppers M et al.

Neurobiology of Aging, 2012

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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."