Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.S319G
Back to variants list

PSEN1

NM_000021.4:p.S319G

Associated Papers

Pathogenic PSEN1 Glu184Gly Mutation in a Family from Thailand with Probable Autosomal Dominant Early Onset Alzheimer's Disease.

Senanarong V et al.

Diagnostics (basel, Switzerland), 2020

32121568 (PubMed )
Supplement: diagnostics-10-00135-s001.pdf

Genetic analyses of early-onset Alzheimer's disease using next generation sequencing.

Giau VV et al.

Scientific Reports, 2019

31182772 (PubMed )
Supplement: 41598_2019_44848_MOESM1_ESM.pdf

Transcriptional regulation and its misregulation in Alzheimer's disease.

Chen XF et al.

Molecular Brain, 2013

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."