Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.E723delFs
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LDLR

NM_000527.5:p.E723delFs

Associated Papers

Diagnostic and Therapeutic Challenges of Homozygous and Severe Heterozygous Familial Hypercholesterolemia from Clinical Aspect-A Single-Center Study.

Nádró B et al.

Journal of Clinical Medicine, 2025

Establishing the Mutational Spectrum of Hungarian Patients with Familial Hypercholesterolemia.

Madar L et al.

Genes, 2022

Eight novel LDL receptor gene mutations among patients under LDL apheresis in Dresden and Leipzig.

Bochmann H et al.

Human Mutation, 2001

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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."