Varaico: Literature-Extracted Genetic Variants

Gene:TARDBP
Variant:p.K84Q
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TARDBP

NM_007375.4:p.K84Q

Associated Papers

Single Acetylation-mimetic Mutation in TDP-43 Nuclear Localization Signal Disrupts Importin α1/β Signaling.

Ko YH et al.

Journal of Molecular Biology, 2024

Nuclear-import receptors as gatekeepers of pathological phase transitions in ALS/FTD.

Khalil B et al.

Molecular Neurodegeneration, 2024

Sirtuin-1 sensitive lysine-136 acetylation drives phase separation and pathological aggregation of TDP-43.

Garcia Morato J et al.

Nature Communications, 2022

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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."