Varaico: Literature-Extracted Genetic Variants

Gene:TARDBP
Variant:p.V100I
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TARDBP

NM_007375.4:p.V100I

Associated Papers

Pathogenic TDP-43 in amyotrophic lateral sclerosis.

Chong ZZ et al.

Drug Discovery Today, 2025

Structural Insights Into TDP-43 and Effects of Post-translational Modifications.

François-Moutal L et al.

Frontiers in Molecular Neuroscience, 2019

The inhibition of TDP-43 mitochondrial localization blocks its neuronal toxicity.

Wang W et al.

Nature Medicine, 2016

TDP-43 pathology in a case of hereditary spastic paraplegia with a NIPA1/SPG6 mutation.

Martinez-Lage M et al.

Acta Neuropathologica, 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."