Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.T122A
Back to variants list

PSEN1

NM_000021.4:p.T122A

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 › 3-Supplemental_Table2_AR_20250121_Jlli_B_Alz.pdf

Presenilin-1 (PSEN1) Mutations: Clinical Phenotypes beyond Alzheimer's Disease.

Yang Y et al.

International Journal of Molecular Sciences, 2023

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

Bagaria J et al.

International Journal of Molecular Sciences, 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

Validation of next-generation sequencing technologies in genetic diagnosis of dementia.

Beck J et al.

Neurobiology of Aging, 2014

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."