Varaico: Literature-Extracted Genetic Variants

Gene:ACE
Variant:p.P301L
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ACE

NM_000789.4:p.P301L

Associated Papers

Agraphia in patients with frontotemporal dementia and parkinsonism linked to chromosome 17 with P301L MAPT mutation: dysexecutive, aphasic, apraxic or spatial phenomenon?

Sitek EJ et al.

Neurocase, 2014

Novel L284R MAPT mutation in a family with an autosomal dominant progressive supranuclear palsy syndrome.

Rohrer JD et al.

Neuro-degenerative Diseases, 2011

APP transgenic modeling of Alzheimer's disease: mechanisms of neurodegeneration and aberrant neurogenesis.

Crews L et al.

Brain Structure & Function, 2010

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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."