Varaico: Literature-Extracted Genetic Variants

Gene:MAPT
Variant:p.S697_V698Splc
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MAPT

NM_001377265.1:p.S697_V698Splc

Associated Papers

Population-Specific Differences in Pathogenic Variants of Genes Associated with Monogenic Parkinson's Disease.

Flores-Ocampo V et al.

Genes, 2025

40282414 (PubMed )
Supplement: genes-16-00454-s001.zip › Supplementary_Tables.xlsx › ST2

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

Genetics of Multiple System Atrophy and Progressive Supranuclear Palsy: A Systemized Review of the Literature.

Bougea A

International Journal of Molecular Sciences, 2023

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

An autopsied FTDP-17 case with MAPT IVS 10 + 14C > T mutation presenting with frontotemporal dementia.

Watanabe R et al.

Eneurologicalsci, 2021

Genetics of Progressive Supranuclear Palsy: A Review.

Wen Y et al.

Journal of Parkinson's Disease, 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

Modeling Parkinson's Disease and Atypical Parkinsonian Syndromes Using Induced Pluripotent Stem Cells.

Mishima T et al.

International Journal of Molecular Sciences, 2018

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

Cheran G et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2018

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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."