Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.S286Splc
Back to variants list

PSEN1

NM_007318.3:p.S286Splc

Associated Papers

The landscape of autosomal-dominant Alzheimer's disease: global distribution and age of onset.

Liu H et al.

Brain : a Journal of Neurology, 2025

39903689 (PubMed )
Supplement: awaf038_supplementary_data.zip › 2-Supplemental_Table1_AR_20250121_JLliF.pdf

A global view of the genetic basis of Alzheimer disease.

Reitz C et al.

Nature Reviews. Neurology, 2023

Clinical and Molecular Findings in a Turkish Family Who Had a (c.869- 1G>A) Splicing Variant in PSEN1 Gene with A Rare Condition: The Variant Alzheimer's Disease with Spastic Paraparesis.

Doğan M et al.

Current Alzheimer Research, 2022

Predictors for a dementia gene mutation based on gene-panel next-generation sequencing of a large dementia referral series.

Koriath C et al.

Molecular Psychiatry, 2020

30279455 (PubMed )
Supplement: 41380_2018_224_MOESM1_ESM.docx

Identification and Clinical Analysis of the First Nonsense Mutation in the PSEN1 Gene in a Family With Acute Encephalopathy and Retinitis Pigmentosa.

You C et al.

Frontiers in Neurology, 2020

The Whole Exome Sequencing Clarifies the Genotype- Phenotype Correlations in Patients with Early-Onset Dementia.

Xu Y et al.

Aging and Disease, 2018

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."