Varaico: Literature-Extracted Genetic Variants

Gene:SQSTM1
Variant:p.P146_C154ins3
Back to variants list

SQSTM1

NM_003900.5:p.P146_C154ins3

Associated Papers

Atypical Frontotemporal Dementia Associated With SQSTM1 Gene Mutation: A Clinicopathological Case.

Espinoza-Vinces C et al.

Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2025

Heterozygous and Homozygous Variants in SORL1 Gene in Alzheimer's Disease Patients: Clinical, Neuroimaging and Neuropathological Findings.

Alvarez-Mora MI et al.

International Journal of Molecular Sciences, 2022

35457051 (PubMed )
Supplement: ijms-23-04230-s001.zip › ijms-1660070-supplementary.pdf

Expanding the clinical and genetic spectrum of SQSTM1-related disorders in family with personality disorder and frontotemporal dementia.

Llamas-Velasco S et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2021

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."