Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.L248P
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PSEN1

NM_000021.4:p.L248P

Associated Papers

A New Presenilin 1 (Psen1) Mutation (p.Cys263Trp) as a Cause of Both Early and Late-Onset Alzheimer's Disease in a Large Italian Family.

Tortelli R et al.

International Journal of Molecular Sciences, 2021

Protein Predictive Modeling and Simulation of Mutations of Presenilin-1 Familial Alzheimer's Disease on the Orthosteric Site.

Soto-Ospina A et al.

Frontiers in Molecular Biosciences, 2021

Gene mutations associated with early onset familial Alzheimer's disease in China: An overview and current status.

Qin Q et al.

Molecular Genetics & Genomic Medicine, 2020

Aβ42/Aβ40 Ratios of Presenilin 1 Mutations Correlate with Clinical Onset of Alzheimer's Disease.

Tang N et al.

Journal of Alzheimer's Disease : Jad, 2018

30412504 (PubMed )
Supplement: sj-docx-1-alz-10.3233_jad-180829.docx

Identification of a novel PSEN1 mutation (Leu232Pro) in a Korean patient with early-onset Alzheimer's disease and a family history of dementia.

Park J et al.

Neurobiology of Aging, 2017

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

Bagyinszky E et al.

Clinical Interventions in Aging, 2016

A genetic screen of the mutations in the Korean patients with early-onset Alzheimer's disease.

An SS et al.

Clinical Interventions in Aging, 2016

Mutational analysis in early-onset familial Alzheimer's disease in Mainland China.

Jiao B et al.

Neurobiology of Aging, 2014

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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."