Varaico: Literature-Extracted Genetic Variants

Gene:UBQLN1
Variant:p.E54D
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UBQLN1

NM_013438.5:p.E54D

Associated Papers

Targeted sequencing panels in Italian ALS patients support different etiologies in the ALS/FTD continuum.

Bartoletti-Stella A et al.

Journal of Neurology, 2021

Structure, dynamics and functions of UBQLNs: at the crossroads of protein quality control machinery.

Zheng T et al.

The Biochemical Journal, 2020

A novel ALS-associated variant in UBQLN4 regulates motor axon morphogenesis.

Edens BM et al.

Elife, 2017

Association of UBQLN1 mutation with Brown-Vialetto-Van Laere syndrome but not typical ALS.

González-Pérez P et al.

Neurobiology of Disease, 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."