Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.C52C
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LDLR

NM_000527.5:p.C52C

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

A Real-World Experience of Clinical, Biochemical and Genetic Assessment of Patients with Homozygous Familial Hypercholesterolemia.

Di Taranto MD et al.

Journal of Clinical Medicine, 2020

Molecular genetics of familial hypercholesterolemia in Israel-revisited.

Durst R et al.

Atherosclerosis, 2017

Molecular basis of autosomal dominant hypercholesterolemia: assessment in a large cohort of hypercholesterolemic children.

van der Graaf A et al.

Circulation, 2011

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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."