Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.G417S
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PSEN1

NM_000021.4:p.G417S

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

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

Bagaria J et al.

International Journal of Molecular Sciences, 2022

PSEN1 G417S mutation in a Chinese pedigree causing early-onset parkinsonism with cognitive impairment.

Jiang L et al.

Neurobiology of Aging, 2022

Clinicopathological heterogeneity of Alzheimer's disease with pure Alzheimer's disease pathology: Cases associated with dementia with Lewy bodies, very early-onset dementia, and primary progressive aphasia.

Kawakatsu S et al.

Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2021

Cerebral Small Vessel Disease in Sporadic and Familial Alzheimer Disease.

Kalaria RN et al.

The American Journal of Pathology, 2021

Young adult-onset, very slowly progressive cognitive decline with spastic paraparesis in Alzheimer's disease with cotton wool plaques due to a novel presenilin1 G417S mutation.

Miki T et al.

Acta Neuropathologica Communications, 2019

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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."