Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.P309fs
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LDLR

NM_000527.5:p.P309fs

Associated Papers

Familial hypercholesterolemia - Targeted whole gene sequencing as a diagnostic approach.

Adolfsson E et al.

Atherosclerosis Plus, 2025

Genetic testing for familial hypercholesterolemia in a Finnish cohort of patients with premature coronary artery disease and elevated LDL-C levels.

Jokiniitty A et al.

Frontiers in Cardiovascular Medicine, 2024

Novel Finnish-enriched variants causing severe hypercholesterolemia and their clinical impact on coronary artery disease.

Junna N et al.

Atherosclerosis, 2023

Role of an automated screening tool for familial hypercholesterolemia in patients with premature coronary artery disease.

Jokiniitty A et al.

Atherosclerosis Plus, 2022

Multiparametric platform for profiling lipid trafficking in human leukocytes.

Pfisterer SG et al.

Cell Reports Methods, 2022

Limited-Variant Screening vs Comprehensive Genetic Testing for Familial Hypercholesterolemia Diagnosis.

Sturm AC et al.

Jama Cardiology, 2021

34037665 (PubMed )
Supplement: jamacardiol-e211301-s001.pdf

Prevalence and clinical correlates of familial hypercholesterolemia founder mutations in the general population.

Lahtinen AM et al.

Atherosclerosis, 2015

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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."