Varaico: Literature-Extracted Genetic Variants

Gene:TARDBP
Variant:p.K82Q
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TARDBP

NM_007375.4:p.K82Q

Associated Papers

Structural insights and milestones in TDP-43 research: A comprehensive review of its pathological and therapeutic advances.

Dang M et al.

International Journal of Biological Macromolecules, 2025

Accumulation of TDP-43 causes karyopherin-α4 pathology that characterises amyotrophic lateral sclerosis.

Atwal MS et al.

Frontiers in Neuroscience, 2025

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

Ko YH et al.

Journal of Molecular Biology, 2024

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