Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.E280K
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PSEN1

NM_000021.4:p.E280K

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

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

Bagaria J et al.

International Journal of Molecular Sciences, 2022

36142879 (PubMed )
Supplement: ijms-23-10970-s001.zip › ijms-1845693-supplementary.xlsx › Sheet1

How understudied populations have contributed to our understanding of Alzheimer's disease genetics.

Dehghani N et al.

Brain : a Journal of Neurology, 2021

A Case of Early-Onset Alzheimer's Disease Mimicking Schizophrenia in a Patient with Presenilin 1 Mutation (S170P).

Kim HR et al.

Journal of Alzheimer's Disease : Jad, 2021

Phenylketonuria Diagnosis by Massive Parallel Sequencing and Genotype-Phenotype Association in Brazilian Patients.

Tresbach RH et al.

Genes, 2020

Mutational analysis in familial Alzheimer's disease of Han Chinese in Taiwan with a predominant mutation PSEN1 p.Met146Ile.

Lin YS et al.

Scientific Reports, 2020

APP, PSEN1, and PSEN2 Mutations in Asian Patients with Early-Onset Alzheimer Disease.

Giau VV et al.

International Journal of Molecular Sciences, 2019

Mutations, associated with early-onset Alzheimer's disease, discovered in Asian countries.

Bagyinszky E et al.

Clinical Interventions in Aging, 2016

Identification of two novel mutations, PSEN1 E280K and PRNP G127S, in a Malaysian family.

Ch'ng GS et al.

Neuropsychiatric Disease and Treatment, 2015

Presenilin Gene Mutation-associated Psychosis: Phenotypic Characteristics and Clinical Implications.

Colijn MA et al.

Alzheimer Disease and Associated Disorders, 0

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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."