Varaico: Literature-Extracted Genetic Variants

Gene:MAPT
Variant:p.R5C
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MAPT

NM_001377265.1:p.R5C

Associated Papers

FTLD-MAPT mutations and short 5'UTR Tau mRNAs increase Tau translation.

da Costa PJ et al.

Nar Molecular Medicine, 2024

Genetic and clinical landscape of Chinese frontotemporal dementia: dominance of TBK1 and OPTN mutations.

Nan H et al.

Alzheimer's Research & Therapy, 2024

Altered Anterior Insular Metabolic Connectivity in Asymptomatic MAPT P301L Carriers.

Chu M et al.

Journal of Alzheimer's Disease : Jad, 2023

Reconfigured metabolism brain network in asymptomatic microtubule-associated protein tau mutation carriers: a graph theoretical analysis.

Liu L et al.

Alzheimer's Research & Therapy, 2022

Tau mRNA Metabolism in Neurodegenerative Diseases: A Tangle Journey.

da Costa PJ et al.

Biomedicines, 2022

The Frequency of Genetic Mutations Associated With Behavioral Variant Frontotemporal Dementia in Chinese Han Patients.

Liu L et al.

Frontiers in Aging Neuroscience, 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."