Varaico: Literature-Extracted Genetic Variants

Gene:SQSTM1
Variant:p.P118S
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SQSTM1

NM_003900.5:p.P118S

Associated Papers

ALS Identified: two-year findings from a sponsored ALS genetic testing program.

Goutman SA et al.

Annals of Clinical and Translational Neurology, 2024

39044379 (PubMed )
Supplement: ACN3-11-2201-s003.xlsx › ClinGen_VariantClassification

Burden of Rare Variants in ALS and Axonal Hereditary Neuropathy Genes Influence Survival in ALS: Insights from a Next Generation Sequencing Study of an Italian ALS Cohort.

Scarlino S et al.

International Journal of Molecular Sciences, 2020

PRIMA-1MET-induced neuroblastoma cell death is modulated by p53 and mycn through glutathione level.

Mlakar V et al.

Journal of Experimental & Clinical Cancer Research : Cr, 2019

30755224 (PubMed )
Supplement: 13046_2019_1066_MOESM1_ESM.xlsx › CHP212

Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource.

Keogh MJ et al.

Genome Research, 2017

28003435 (PubMed )
Supplement: supp_gr.210609.116_Supplemental_Clinical_data.xlsx › Likely_Benign

SQSTM1 Mutations and Glaucoma.

Scheetz TE et al.

Plos One, 2016

Genetic variability in SQSTM1 and risk of early-onset Alzheimer dementia: a European early-onset dementia consortium study.

Cuyvers E et al.

Neurobiology of Aging, 2015

Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration.

van der Zee J et al.

Acta Neuropathologica, 2014

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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."