Varaico: Literature-Extracted Genetic Variants

Gene:UBQLN2
Variant:p.I383V
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UBQLN2

NM_013444.4:p.I383V

Associated Papers

TDP-43 proteinopathies and neurodegeneration: insights from Caenorhabditis elegans models.

Pir GJ et al.

The Febs Journal, 2026

TDP-43 protein interactome informs about perturbed canonical pathways and may help develop personalized medicine approaches for patients with TDP-43 pathology.

Helmold BR et al.

Drug Discovery Today, 2023

The distinct genetic pattern of ALS in Turkey and novel mutations.

Özoğuz A et al.

Neurobiology of Aging, 2015

Extensive molecular genetic survey of Taiwanese patients with amyotrophic lateral sclerosis.

Soong BW et al.

Neurobiology of Aging, 2014

TDP-43/FUS in motor neuron disease: Complexity and challenges.

Guerrero EN et al.

Progress in Neurobiology, 0

TARDBP mutation associated with semantic variant primary progressive aphasia, case report and review of the literature.

González-Sánchez M et al.

Neurocase, 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."