Varaico: Literature-Extracted Genetic Variants

Gene:TARDBP
Variant:p.G357D
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TARDBP

NM_007375.4:p.G357D

Associated Papers

ALS Identified: two-year findings from a sponsored ALS genetic testing program.

Goutman SA et al.

Annals of Clinical and Translational Neurology, 2024

39044379 (PubMed )
Supplement: ACN3-11-2201-s003.xlsx › ClinGen_VariantClassification

Triad of TDP43 control in neurodegeneration: autoregulation, localization and aggregation.

Tziortzouda P et al.

Nature Reviews. Neuroscience, 2021

The debated toxic role of aggregated TDP-43 in amyotrophic lateral sclerosis: a resolution in sight?

Hergesheimer RC et al.

Brain : a Journal of Neurology, 2019

30938443 (PubMed )
Supplement: awz078_supplementary_data.pdf

RNA-Seq profiling in peripheral blood mononuclear cells of amyotrophic lateral sclerosis patients and controls.

Zucca S et al.

Scientific Data, 2019

Comprehensive targeted next-generation sequencing in Japanese familial amyotrophic lateral sclerosis.

Nishiyama A et al.

Neurobiology of Aging, 2017

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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."