Varaico: Literature-Extracted Genetic Variants

Gene:UBQLN2
Variant:p.T336A
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UBQLN2

NM_013444.4:p.T336A

Associated Papers

A meta-analysis of genetic variant pathogenicity and sex differences in UBQLN2-linked amyotrophic lateral sclerosis and frontotemporal dementia.

Thumbadoo KM et al.

Neurobiology of Disease, 2025

Role of genetics in amyotrophic lateral sclerosis: a large cohort study in Chinese mainland population.

Chen YP et al.

Journal of Medical Genetics, 2022

34544842 (PubMed )
Supplement: jmedgenet-2021-107965supp003.pdf

First case of an UBQLN2 gene mutation causing frontotemporal dementia preceded by adult onset psychiatric symptoms.

Raggi A et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2020

Screening UBQLN-2 in French frontotemporal lobar degeneration and frontotemporal lobar degeneration-amyotrophic lateral sclerosis patients.

Lattante S et al.

Neurobiology of Aging, 2013

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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."