Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.R278G
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PSEN1

NM_000021.4:p.R278G

Associated Papers

Identification and characterization of variants in PSEN1, PSEN2, and APP genes in Chinese patients with early-onset Alzheimer's disease.

Nan H et al.

Alzheimer's Research & Therapy, 2025

Positive amyloid and tau PET in an early-onset Alzheimer's disease with a rare PSEN1 (Arg278Gly) mutation.

Yang L et al.

European Journal of Nuclear Medicine and Molecular Imaging, 2025

The mutational profile in a South African cohort with inherited neuropathies and spastic paraplegia.

Mahungu AC et al.

Frontiers in Neurology, 2023

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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."