Varaico: Literature-Extracted Genetic Variants

Gene:PSEN2
Variant:p.E114_K115delFs
Back to variants list

PSEN2

NM_000447.3:p.E114_K115delFs

Associated Papers

Neurodegenerative diseases: a hotbed for splicing defects and the potential therapies.

Li D et al.

Translational Neurodegeneration, 2021

Alternative splicing in a presenilin 2 variant associated with Alzheimer disease.

Braggin JE et al.

Annals of Clinical and Translational Neurology, 2019

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."