Varaico: Literature-Extracted Genetic Variants

Gene:MAPT
Variant:p.S697_V698Splc
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MAPT

NM_001377265.1:p.S697_V698Splc

Associated Papers

Structural and functional connectivity in tau mutation carriers: from presymptomatic to symptomatic frontotemporal dementia.

Bouzigues A et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2025

Respiratory failure as main presentation sign of MAPT-related disorder.

Favier M et al.

Journal of Neurology, 2025

Cellular and pathological functions of tau.

Parra Bravo C et al.

Nature Reviews. Molecular Cell Biology, 2024

A clinical, molecular genetics and pathological study of a FTDP-17 family with a heterozygous splicing variant c.823-10G>T at the intron 9/exon 10 of the MAPT gene.

Olszewska DA et al.

Neurobiology of Aging, 2021

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

Cognitive Indicators of Preclinical Behavioral Variant Frontotemporal Dementia in MAPT Carriers.

Cheran G et al.

Journal of the International Neuropsychological Society : Jins, 2019

Psychiatric symptoms in preclinical behavioural-variant frontotemporal dementia in MAPT mutation carriers.

Cheran G et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2018

Closing the tau loop: the missing tau mutation.

McCarthy A et al.

Brain : a Journal of Neurology, 2015

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