Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.E34K
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PSEN1

NM_000021.4:p.E34K

Associated Papers

The role of genetics in neurodegenerative dementia: a large cohort study in South China.

Jiao B et al.

Npj Genomic Medicine, 2021

34389718 (PubMed )
Supplement: 41525_2021_235_MOESM1_ESM.docx

Amyloid-β1-43 cerebrospinal fluid levels and the interpretation of APP, PSEN1 and PSEN2 mutations.

Perrone F et al.

Alzheimer's Research & Therapy, 2020

32917274 (PubMed )
Supplement: 13195_2020_676_MOESM1_ESM.docx

PSEN1 p.Met233Val in a Complex Neurodegenerative Movement and Neuropsychiatric Disorder.

Appel-Cresswell S et al.

Journal of Movement Disorders, 2018

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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."