Varaico: Literature-Extracted Genetic Variants

Gene:NUP62
Variant:p.S2C
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NUP62

NM_016553.5:p.S2C

Associated Papers

[To screen for SQSTM1/p62 gene in Chinese patients with familial amyotrophic lateral sclerosis carrying superoxide dismutase 1 mutation].

Yang Y et al.

Zhonghua Nei Ke Za Zhi, 2014

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

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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."