Varaico: Literature-Extracted Genetic Variants

Gene:UBQLN2
Variant:p.T487T
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UBQLN2

NM_013444.4:p.T487T

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

Dementia-related genetic variants in an Italian population of early-onset Alzheimer's disease.

Bartoletti-Stella A et al.

Frontiers in Aging Neuroscience, 2022

UBQLN2 mutations are not a frequent cause of amyotrophic lateral sclerosis in Ireland.

McLaughlin RL et al.

Neurobiology of Aging, 2014

Ubiquilin 2 mutations in Italian patients with amyotrophic lateral sclerosis and frontotemporal dementia.

Gellera C et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2013

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

Daoud H et al.

Neurobiology of Aging, 2012

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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."