Varaico: Literature-Extracted Genetic Variants

Gene:PUM3
Variant:p.C410Y
Back to variants list

PUM3

NM_014878.5:p.C410Y

Associated Papers

Early molecular events of autosomal-dominant Alzheimer's disease in marmosets with PSEN1 mutations.

Homanics GE et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2024

38574388 (PubMed )
Supplement: ALZ-20-3455-s002.docx

Familial Alzheimer's disease mutations in presenilins: effects on endoplasmic reticulum calcium homeostasis and correlation with clinical phenotypes.

Nelson O et al.

Journal of Alzheimer's Disease : Jad, 2010

Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin-1 gene.

Larner AJ et al.

Journal of Neurology, 2006

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."