Varaico: Literature-Extracted Genetic Variants

Gene:SQSTM1
Variant:p.E396insFs
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SQSTM1

NM_003900.5:p.E396insFs

Associated Papers

SQSTM1 variant in disorders of the frontotemporal dementia-amyotrophic lateral sclerosis spectrum: identification of a novel heterozygous variant and a review of the literature.

Li W et al.

Journal of Neurology, 2021

Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration.

van der Zee J et al.

Acta Neuropathologica, 2014

24899140 (PubMed )
Supplement: 401_2014_1298_MOESM1_ESM.docx
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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."