Varaico: Literature-Extracted Genetic Variants

Gene:UBQLN2
Variant:p.S155N
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UBQLN2

NM_013444.4:p.S155N

Associated Papers

A Japanese familial spastic paraplegia associated with a missense UBQLN2 variant.

Watanabe K et al.

Journal of Human Genetics, 2025

40841583 (PubMed )
Supplement: 10038_2025_1392_MOESM1_ESM.pdf

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

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

UBQLN2 mutations are rare in French and French-Canadian amyotrophic lateral sclerosis.

Daoud H et al.

Neurobiology of Aging, 2012

Unraveling the multifaceted insights into amyotrophic lateral sclerosis: Genetic underpinnings, pathogenesis, and therapeutic horizons.

Sharma R et al.

Mutation Research. Reviews in Mutation Research, 0

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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."