Varaico: Literature-Extracted Genetic Variants

Gene:MAPT
Variant:p.Q230R
Back to variants list

MAPT

NM_001123066.4:p.Q230R

Associated Papers

Mutation Analysis of the Genes Linked to Early Onset Alzheimer's Disease and Frontotemporal Lobar Degeneration.

Luukkainen L et al.

Journal of Alzheimer's Disease : Jad, 2019

New endemic familial parkinsonism in south Moravia, Czech Republic and its genetical background.

Bartoníková T et al.

Medicine, 2018

Mutation Frequency of the Major Frontotemporal Dementia Genes, MAPT, GRN and C9ORF72 in a Turkish Cohort of Dementia Patients.

Guven G et al.

Plos One, 2016

On the identification of low allele frequency mosaic mutations in the brains of Alzheimer's disease patients.

Sala Frigerio C et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2015

Nonsense mutation in PRNP associated with clinical Alzheimer's disease.

Guerreiro R et al.

Neurobiology of Aging, 2014

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."