Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.F807fs
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LDLR

NM_000527.5:p.F807fs

Associated Papers

Efficacy and Safety of Alirocumab in Children and Adolescents With Homozygous Familial Hypercholesterolemia: Phase 3, Multinational Open-Label Study.

Bruckert E et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2022

36325897 (PubMed )
Supplement: atv-42-1447-s001.pdf

The Digenic Causality in Familial Hypercholesterolemia: Revising the Genotype-Phenotype Correlations of the Disease.

Kamar A et al.

Frontiers in Genetics, 2020

Double-heterozygous autosomal dominant hypercholesterolemia: Clinical characterization of an underreported disease.

Sjouke B et al.

Journal of Clinical Lipidology, 0

The clinical and molecular diversity of homozygous familial hypercholesterolemia in children: Results from the GeneTics of clinical homozygous hypercholesterolemia (GoTCHA) study.

Luirink IK et al.

Journal of Clinical Lipidology, 0

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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."