Varaico: Literature-Extracted Genetic Variants

Gene:MAPT
Variant:p.A324T
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MAPT

NM_001377265.1:p.A324T

Associated Papers

Pleiotropic Effects of Variants in Dementia Genes in Parkinson Disease.

Ibanez L et al.

Frontiers in Neuroscience, 2018

29692703 (PubMed )
Supplement: Table3.DOCX

Exome sequencing in dementia with Lewy bodies.

Keogh MJ et al.

Translational Psychiatry, 2016

26836416 (PubMed )
Supplement: tp2015220x1.docx

Mechanisms of granulin deficiency: lessons from cellular and animal models.

Kleinberger G et al.

Molecular Neurobiology, 2013

Serum biomarker for progranulin-associated frontotemporal lobar degeneration.

Sleegers K et al.

Annals of Neurology, 2009

Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family members.

Finch N et al.

Brain : a Journal of Neurology, 2009

Frequency and clinical characteristics of progranulin mutation carriers in the Manchester frontotemporal lobar degeneration cohort: comparison with patients with MAPT and no known mutations.

Pickering-Brown SM et al.

Brain : a Journal of Neurology, 2008

A distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK series.

Beck J et al.

Brain : a Journal of Neurology, 2008

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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."