Varaico: Literature-Extracted Genetic Variants

Gene:TARDBP
Variant:p.K145N
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TARDBP

NM_007375.4:p.K145N

Associated Papers

Genetics screening in an Italian cohort of patients with Amyotrophic Lateral Sclerosis: the importance of early testing and its implication.

Libonati L et al.

Journal of Neurology, 2024

Frontotemporal dementia-linked P112H mutation of TDP-43 induces protein structural change and impairs its RNA binding function.

Agrawal S et al.

Protein Science : a Publication of the Protein Society, 2021

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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."