Varaico: Literature-Extracted Genetic Variants

Gene:MAPT
Variant:p.S285R
Back to variants list

MAPT

NM_005910.6:p.S285R

Associated Papers

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

Nan H et al.

Alzheimer's Research & Therapy, 2024

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

Villa C et al.

Frontiers in Bioscience (landmark Edition), 2024

A novel MAPT variant (E342K) as a cause of familial progressive supranuclear palsy.

Li H et al.

Frontiers in Neurology, 2024

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."