Varaico: Literature-Extracted Genetic Variants

Gene:TARDBP
Variant:p.G392G
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TARDBP

NM_007375.4:p.G392G

Associated Papers

Sephin1 reduces TDP-43 cytoplasmic mislocalization and improves motor neuron survival in ALS models.

Abgueguen E et al.

Life Science Alliance, 2025

Variability in Clinical Phenotype in TARDBP Mutations: Amyotrophic Lateral Sclerosis Case Description and Literature Review.

Lombardi M et al.

Genes, 2023

38002982 (PubMed )
Supplement: genes-14-02039-s001.zip › genes-2688630-supplementary › genes-2688630.xlsx › 267_paz

Augmentation of spinal cord glutamatergic synaptic currents in zebrafish primary motoneurons expressing mutant human TARDBP (TDP-43).

Petel Légaré V et al.

Scientific Reports, 2019

Transcriptomic Analysis of Zebrafish TDP-43 Transgenic Lines.

Lissouba A et al.

Frontiers in Molecular Neuroscience, 2018

Pathological hallmarks of amyotrophic lateral sclerosis/frontotemporal lobar degeneration in transgenic mice produced with TDP-43 genomic fragments.

Swarup V et al.

Brain : a Journal of Neurology, 2011

Two German kindreds with familial amyotrophic lateral sclerosis due to TARDBP mutations.

Kühnlein P et al.

Archives of Neurology, 2008

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."