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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:APEH

Variant:p.L282R

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APEH

NM_001640.4:p.L282R

hg38:chr3:49676785 T>G

Associated Papers

Aβ profiles generated by Alzheimer's disease causing PSEN1 variants determine the pathogenicity of the mutation and predict age at disease onset.

Petit D et al.

Molecular Psychiatry, 2022

35365805 (PubMed )

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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."