Varaico: Literature-Extracted Genetic Variants

Gene:TARDBP
Variant:p.Q303P
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TARDBP

NM_007375.4:p.Q303P

Associated Papers

TAR DNA-binding protein 43 oligomers in physiology and pathology.

Lye YS et al.

Iubmb Life, 2022

Heat-shock protein dysregulation is associated with functional and pathological TDP-43 aggregation.

Chang HY et al.

Nature Communications, 2013

The self-interaction of native TDP-43 C terminus inhibits its degradation and contributes to early proteinopathies.

Wang IF et al.

Nature Communications, 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."