Varaico: Literature-Extracted Genetic Variants

Gene:MAPT
Variant:p.D177V
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MAPT

NM_001123066.4:p.D177V

Associated Papers

Direct interaction between TDP-43 and Tau promotes their co-condensation, while suppressing Tau fibril formation and seeding.

Simonetti F et al.

The Embo Journal, 2025

41107545 (PubMed )
Supplement: 44318_2025_590_MOESM2_ESM.xlsx › Sheet1

Identification of Genetic Variants in Progressive Supranuclear Palsy in Southeast Asia.

Ng ASL et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2024

Phenotype Heterogeneity and Genotype Correlation of MAPT Mutations in a Chinese PUMCH Cohort.

Mao C et al.

Journal of Molecular Neuroscience : Mn, 2021

Tau Protein and Frontotemporal Dementias.

Goedert M et al.

Advances in Experimental Medicine and Biology, 2021

Two pathologically confirmed cases of novel mutations in the MAPT gene causing frontotemporal dementia.

Shafei R et al.

Neurobiology of Aging, 2020

The role of MAPT gene in Chinese dementia patients: a P301L pedigree study and brief literature review.

He S et al.

Neuropsychiatric Disease and Treatment, 2018

Analyses MAPT, GRN, and C9orf72 mutations in Chinese patients with frontotemporal dementia.

Tang M et al.

Neurobiology of Aging, 2016

Clinical and genetic analysis of MAPT, GRN, and C9orf72 genes in Korean patients with frontotemporal dementia.

Kim EJ et al.

Neurobiology of Aging, 2014

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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."