Varaico: Literature-Extracted Genetic Variants

Gene:SQSTM1
Variant:p.S318S
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SQSTM1

NM_003900.5:p.S318S

Associated Papers

Dementia-related genetic variants in an Italian population of early-onset Alzheimer's disease.

Bartoletti-Stella A et al.

Frontiers in Aging Neuroscience, 2022

36133075 (PubMed )
Supplement: Table_1.XLSX › AD_020

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

Foster AD et al.

Neural Regeneration Research, 2020

Renal oncocytoma characterized by the defective complex I of the respiratory chain boosts the synthesis of the ROS scavenger glutathione.

Kürschner G et al.

Oncotarget, 2017

29285300 (PubMed )
Supplement: oncotarget-08-105882-s002.xlsx › nuclear_gene_mutations

SQSTM1 Mutations and Glaucoma.

Scheetz TE et al.

Plos One, 2016

27275741 (PubMed )
Supplement: pone.0156001.s001.xlsx › Sheet1

Sequestosome-1 (SQSTM1) sequence variants in ALS cases in the UK: prevalence and coexistence of SQSTM1 mutations in ALS kindred with PDB.

Kwok CT et al.

European Journal of Human Genetics : Ejhg, 2014

SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis.

Fecto F et al.

Archives of Neurology, 2011

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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."