Varaico: Literature-Extracted Genetic Variants

Gene:SMN1
Variant:p.I113T
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SMN1

NM_000344.4:p.I113T

Associated Papers

TDP-43 is consistently co-localized with ubiquitinated inclusions in sporadic and Guam amyotrophic lateral sclerosis but not in familial amyotrophic lateral sclerosis with and without SOD1 mutations.

Maekawa S et al.

Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2009

[Genetics of motor neuron disorders].

Corcia P et al.

Revue Neurologique, 2008

Mutational analysis of the Cu/Zn superoxide dismutase gene in a Catalan ALS population: should all sporadic ALS cases also be screened for SOD1?

Gamez J et al.

Journal of the Neurological Sciences, 2006

Genetics of sporadic ALS.

Andersen PM

Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders : Official Publication of the World Federation of Neurology, Research Group on Motor Neuron Diseases, 2001

Perspective on SOD1 mediated toxicity in Amyotrophic Lateral Sclerosis.

Sangwan S et al.

Postepy Biochemii, 0

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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."