Varaico: Literature-Extracted Genetic Variants

Gene:MAPT
Variant:p.S697_V698Splc
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MAPT

NM_001377265.1:p.S697_V698Splc

Associated Papers

Cellular and pathological functions of tau.

Parra Bravo C et al.

Nature Reviews. Molecular Cell Biology, 2024

A heterozygous splicing variant IVS9-7A > T in intron 9 of the MAPT gene in a patient with right-temporal variant frontotemporal dementia with atypical 4 repeat tauopathy.

Mori K et al.

Acta Neuropathologica Communications, 2023

Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study.

Moore KM et al.

The Lancet. Neurology, 2020

31810826 (PubMed )
Supplement: NIHMS1067362-supplement-Supplement.pdf

Tau mis-splicing in the pathogenesis of neurodegenerative disorders.

Park SA et al.

Bmb Reports, 2016

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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."