Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.Q222R
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PSEN1

NM_000021.4:p.Q222R

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

The genetics of Alzheimer's disease.

Bagyinszky E et al.

Clinical Interventions in Aging, 2014

Testing computational prediction of missense mutation phenotypes: functional characterization of 204 mutations of human cystathionine beta synthase.

Wei Q et al.

Proteins, 2010

Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin-1 gene.

Larner AJ et al.

Journal of Neurology, 2006

Genetic aspects of Alzheimer's disease.

Zekanowski C et al.

Acta Neurobiologiae Experimentalis, 2004

Mutations in presenilin 1, presenilin 2 and amyloid precursor protein genes in patients with early-onset Alzheimer's disease in Poland.

Zekanowski C et al.

Experimental Neurology, 2003

Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations.

Rogaeva EA et al.

Neurology, 2001

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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."