Varaico: Literature-Extracted Genetic Variants

Gene:UBB
Variant:p.Q116H
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UBB

NM_018955.4:p.Q116H

Associated Papers

Diving deep: zebrafish models in motor neuron degeneration research.

Garg V et al.

Frontiers in Neuroscience, 2024

Molecular Mechanisms Underlying TDP-43 Pathology in Cellular and Animal Models of ALS and FTLD.

Wood A et al.

International Journal of Molecular Sciences, 2021

Accelerated disease onset with stabilized familial amyotrophic lateral sclerosis (ALS)-linked mutant TDP-43 proteins.

Watanabe S et al.

The Journal of Biological Chemistry, 2013

Mutational analysis of TARDBP in neurodegenerative diseases.

Ticozzi N et al.

Neurobiology of Aging, 2011

TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis.

Kabashi E et al.

Nature Genetics, 2008

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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."