Varaico: Literature-Extracted Genetic Variants

Gene:TARDBP
Variant:p.T115A
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TARDBP

NM_007375.4:p.T115A

Associated Papers

Loss of TDP-43 function underlies hippocampal and cortical synaptic deficits in TDP-43 proteinopathies.

Ni J et al.

Molecular Psychiatry, 2023

Structural analysis of disease-related TDP-43 D169G mutation: linking enhanced stability and caspase cleavage efficiency to protein accumulation.

Chiang CH et al.

Scientific Reports, 2016

The crystal structure of TDP-43 RRM1-DNA complex reveals the specific recognition for UG- and TG-rich nucleic acids.

Kuo PH et al.

Nucleic Acids Research, 2014

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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."