Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.V797Splc
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LDLR

NM_000527.5:p.V797Splc

Associated Papers

Navigating variants of uncertain significance in genetic dyslipidemia: how to assess and counsel patients.

Ison HE et al.

Current Opinion in Lipidology, 2025

Clinical Evaluation of Patients with Genetically Confirmed Familial Hypercholesterolemia.

Aparicio A et al.

Journal of Clinical Medicine, 2023

Mutational analysis and genotype-phenotype relation in familial hypercholesterolemia: The SAFEHEART registry.

Bourbon M et al.

Atherosclerosis, 2017

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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."