Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.I148V
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PSEN1

NM_000021.4:p.I148V

Associated Papers

Huntington's disease phenocopy syndromes revisited: a clinical comparison and next-generation sequencing exploration.

Koriath CAM et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2025

39443079 (PubMed )
Supplement: jnnp-96-5-s001.pdf

Clinical Phenotype and Mutation Spectrum of Alzheimer's Disease with Causative Genetic Mutation in a Chinese Cohort.

Mao C et al.

Current Alzheimer Research, 2021

34102969 (PubMed )
Supplement: CAR-18-265_SD1.pdf

Rare variants in β-Amyloid precursor protein (APP) and Parkinson's disease.

Schulte EC et al.

European Journal of Human Genetics : Ejhg, 2015

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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."