Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.Q345*
Back to variants list

LDLR

NM_000527.5:p.Q345*

Associated Papers

Child-parent cascade screening for familial hypercholesterolemia in Slovenia: Insights from the pilot program.

Šikonja J et al.

Atherosclerosis, 2025

Medically Actionable Secondary Findings from Whole-Exome Sequencing (WES) Data in a Sample of 3972 Individuals.

Melo M et al.

International Journal of Molecular Sciences, 2025

40332002 (PubMed )
Supplement: ijms-26-03509-s001.zip › Table_S1._Medically_ACMG_actionable_findings_and_carrier_status_identified_in_our_study.xlsx › Allele_frequencies
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."