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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MAPT

Variant:p.N296H

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MAPT

NM_005910.6:p.N296H

hg38:chr17:46010373 A>C

Associated Papers

Clinical and neuroimaging characterization of the first frontotemporal dementia family carrying the MAPT p.K298E mutation.

Pozzi FE et al.

Neurogenetics, 2024

38592608 (PubMed )

Familial behavioral variant frontotemporal dementia associated with astrocyte-predominant tauopathy.

Ferrer I et al.

Journal of Neuropathology and Experimental Neurology, 2015

25756587 (PubMed )

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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."