Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.C255W
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LDLR

NM_000527.5:p.C255W

Associated Papers

Long-term efficacy of lipoprotein apheresis and lomitapide in the treatment of homozygous familial hypercholesterolemia (HoFH): a cross-national retrospective survey.

D'Erasmo L et al.

Orphanet Journal of Rare Diseases, 2021

34496902 (PubMed )
Supplement: 13023_2021_1999_MOESM1_ESM.docx

Microsomal transfer protein (MTP) inhibition-a novel approach to the treatment of homozygous hypercholesterolemia.

Sirtori CR et al.

Annals of Medicine, 2014

Clinical expression of familial hypercholesterolemia in clusters of mutations of the LDL receptor gene that cause a receptor-defective or receptor-negative phenotype.

Bertolini S et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2000

Influence of beta(0)-thalassemia on the phenotypic expression of heterozygous familial hypercholesterolemia : a study of patients with familial hypercholesterolemia from Sardinia.

Deiana L et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2000

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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."