Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.S43S
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PSEN1

NM_000021.4:p.S43S

Associated Papers

Genetic Study of Alzheimer's Disease in Saudi Population.

El Bitar F et al.

Journal of Alzheimer's Disease : Jad, 2019

30636737 (PubMed )
Supplement: sj-docx-1-alz-10.3233_jad-180415.docx

Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenile Alzheimer disease.

Cruts M et al.

Human Molecular Genetics, 1998

A population-based study of familial Alzheimer disease: linkage to chromosomes 14, 19, and 21.

van Duijn CM et al.

American Journal of Human Genetics, 1994

Evaluation of the Clinical Features Accompanied by the Gene Mutations: The 2 Novel PSEN1 Variants in a Turkish Early-onset Alzheimer Disease Cohort.

Eryilmaz IE 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."