Varaico: Literature-Extracted Genetic Variants

Gene:TARDBP
Variant:p.E117G
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TARDBP

NM_007375.4:p.E117G

Associated Papers

Using ALS to understand profilin 1's diverse roles in cellular physiology.

Lindamood HL et al.

Cytoskeleton (hoboken, N.j.), 2025

Molecular Mechanisms of Phase Separation and Amyloidosis of ALS/FTD-linked FUS and TDP-43.

Song J

Aging and Disease, 2024

In silico analysis of PFN1 related to amyotrophic lateral sclerosis.

Pereira GRC et al.

Plos One, 2019

Stress Granules and ALS: A Case of Causation or Correlation?

Fernandes N et al.

Advances in Neurobiology, 2018

Mutations of Profilin-1 Associated with Amyotrophic Lateral Sclerosis Promote Aggregation Due to Structural Changes of Its Native State.

Del Poggetto E et al.

Acs Chemical Biology, 2015

Mutation analysis and immunopathological studies of PFN1 in familial and sporadic amyotrophic lateral sclerosis.

Yang S et al.

Neurobiology of Aging, 2013

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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."