Varaico: Literature-Extracted Genetic Variants

Gene:SQSTM1
Variant:p.G297S
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SQSTM1

NM_003900.5:p.G297S

Associated Papers

Genotype-phenotype correlation of SQSTM1 variants in patients with amyotrophic lateral sclerosis.

Wang S et al.

Journal of Medical Genetics, 2024

The role of sequestosome 1/p62 protein in amyotrophic lateral sclerosis and frontotemporal dementia pathogenesis.

Foster AD et al.

Neural Regeneration Research, 2020

The role of Nrf2 signaling in counteracting neurodegenerative diseases.

Dinkova-Kostova AT et al.

The Febs Journal, 2018

[Association between VAPB mutations and familial amyotrophic lateral sclerosis in Chinese patients].

Zhang H et al.

Zhonghua Yi Xue Za Zhi, 2015

Six SQSTM1 mutations in a Chinese amyotrophic lateral sclerosis cohort.

Yang Y et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2015

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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."