Varaico: Literature-Extracted Genetic Variants

Gene:PCSK9
Variant:p.L19_L20del0
Back to variants list

PCSK9

NM_174936.4:p.L19_L20del0

Associated Papers

A molecular glue RBM39-degrader induces synthetic lethality in cancer cells with homologous recombination repair deficiency.

Kohsaka S et al.

Npj Precision Oncology, 2024

38789724 (PubMed )
Supplement: 41698_2024_610_MOESM3_ESM.xlsx › Supplementary_Data_2

Cardiovascular disease risk in patients with elevated LDL-C levels: FH vs. non-FH.

Huang H et al.

Frontiers in Cardiovascular Medicine, 2024

39512369 (PubMed )
Supplement: Table1.pdf

Patients With LDLR and PCSK9 Gene Variants Experienced Higher Incidence of Cardiovascular Outcomes in Heterozygous Familial Hypercholesterolemia.

Doi T et al.

Journal of the American Heart Association, 2021

33533259 (PubMed )
Supplement: JAH3-10-e018263-s001.pdf

A mutation in the signal sequence of LRP5 in a family with an osteoporosis-pseudoglioma syndrome (OPPG)-like phenotype indicates a novel disease mechanism for trinucleotide repeats.

Chung BD et al.

Human Mutation, 2009

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."