Varaico: Literature-Extracted Genetic Variants

Gene:TARDBP
Variant:p.Q101*
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TARDBP

NM_007375.4:p.Q101*

Associated Papers

Mice deficient in the C-terminal domain of TAR DNA-binding protein 43 develop age-dependent motor dysfunction associated with impaired Notch1-Akt signaling pathway.

Nishino K et al.

Acta Neuropathologica Communications, 2019

Transgenic and physiological mouse models give insights into different aspects of amyotrophic lateral sclerosis.

De Giorgio F et al.

Disease Models & Mechanisms, 2019

A nonsense mutation in mouse Tardbp affects TDP43 alternative splicing activity and causes limb-clasping and body tone defects.

Ricketts T et al.

Plos One, 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."