Varaico: Literature-Extracted Genetic Variants

Gene:MAPT
Variant:p.G696S
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MAPT

NM_001377265.1:p.G696S

Associated Papers

Dissecting the Clinical Heterogeneity and Genotype-Phenotype Correlations of MAPT Mutations: A Systematic Review.

Villa C et al.

Frontiers in Bioscience (landmark Edition), 2024

Genetic screen in a large series of patients with primary progressive aphasia.

Ramos EM et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2019

Different mutations at V363 MAPT codon are associated with atypical clinical phenotypes and show unusual structural and functional features.

Rossi G et al.

Neurobiology of Aging, 2014

A novel MAPT mutation associated with the clinical phenotype of progressive nonfluent aphasia.

Villa C et al.

Journal of Alzheimer's Disease : Jad, 2011

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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."