Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.Q163*
Back to variants list

LDLR

NM_000527.5:p.Q163*

Associated Papers

Performance of LDL-C only compared to the Dutch Lipid Clinic Network Score for screening of familial hypercholesterolaemia: the Austrian experience and literature review.

Ferch M et al.

European Journal of Preventive Cardiology, 2025

39535057 (PubMed )
Supplement: zwae331_supplementary_data.docx

Neglected Mendelian causes of stroke in adult Chinese patients who had an ischaemic stroke or transient ischaemic attack.

Li W et al.

Stroke and Vascular Neurology, 2024

37495379 (PubMed )
Supplement: svn-2022-002158supp001.pdf

Identification of pathogenic variants in the Brazilian cohort with Familial hypercholesterolemia using exon-targeted gene sequencing.

Borges JB et al.

Gene, 2023

Familial hypercholesterolemia in Brazil: cascade screening program, clinical and genetic aspects.

Jannes CE et al.

Atherosclerosis, 2015

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."