Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.G378R
Back to variants list

PSEN1

NM_000021.4:p.G378R

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

Clinical Significance of Early-Onset Alzheimer's Mutations in Asian and Western Populations: A Scoping Review.

Poniah P et al.

Genes, 2025

40149496 (PubMed )
Supplement: genes-16-00345-s001.zip › genes-3411048-supplementary.pdf

Genetics, Functions, and Clinical Impact of Presenilin-1 (PSEN1) Gene.

Bagaria J et al.

International Journal of Molecular Sciences, 2022

Screening of dementia genes by whole-exome sequencing in Spanish patients with early-onset dementia: likely pathogenic, uncertain significance and risk variants.

Ramos-Campoy O et al.

Neurobiology of Aging, 2020

Regional patterns of 18F-florbetaben uptake in presenilin 1 mutation carriers.

Sala-Llonch R et al.

Neurobiology of Aging, 2019

Serum neurofilament light levels correlate with severity measures and neurodegeneration markers in autosomal dominant Alzheimer's disease.

Sánchez-Valle R et al.

Alzheimer's Research & Therapy, 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."