Varaico: Literature-Extracted Genetic Variants

Gene:TARDBP
Variant:p.N259S
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TARDBP

NM_007375.4:p.N259S

Associated Papers

Genotype-phenotype association of TARDBP mutations in Chinese patients with amyotrophic lateral sclerosis: a single-center study and systematic review of published literature.

Li J et al.

Journal of Neurology, 2022

Frontotemporal dementia-linked P112H mutation of TDP-43 induces protein structural change and impairs its RNA binding function.

Agrawal S et al.

Protein Science : a Publication of the Protein Society, 2021

TDP-43 post-translational modifications in health and disease.

Buratti E

Expert Opinion on Therapeutic Targets, 2018

Mutation in the RRM2 domain of TDP-43 in Amyotrophic Lateral Sclerosis with rapid progression associated with ubiquitin positive aggregates in cultured motor neurons.

Maurel C et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2018

Mechanisms Associated with TDP-43 Neurotoxicity in ALS/FTLD.

Shenouda M et al.

Advances in Neurobiology, 2018

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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."