Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.E72K
Back to variants list

PSEN1

NM_000021.4:p.E72K

Associated Papers

Clinical Phenotype and Mutation Spectrum of Alzheimer's Disease with Causative Genetic Mutation in a Chinese Cohort.

Mao C et al.

Current Alzheimer Research, 2021

34102969 (PubMed )
Supplement: CAR-18-265_SD1.pdf

Eight novel mutations detected from eight Chinese patients with isovaleric acidemia.

Li Y et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 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."