Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.R108Q
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PSEN1

NM_000021.4:p.R108Q

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

GiOPARK Project: The Genetic Study of Parkinson's Disease in the Croatian Population.

Rački V et al.

Genes, 2024

38397244 (PubMed )
Supplement: genes-15-00255-s001.zip › genes-2872356-supplementary.pdf

Systematic validation of variants of unknown significance in APP, PSEN1 and PSEN2.

Hsu S et al.

Neurobiology of Disease, 2020

PSEN1 p.Thr116Ile Variant in Two Korean Families with Young Onset Alzheimer's Disease.

Bagyinszky E et al.

International Journal of Molecular Sciences, 2018

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

Genetic testing in familial and young-onset Alzheimer's disease: mutation spectrum in a Serbian cohort.

Dobricic V et al.

Neurobiology of Aging, 2012

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