Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.D304Y
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LDLR

NM_000527.5:p.D304Y

Associated Papers

Case Report: Beating the assumed prognosis: homozygous familial hypercholesterolemia with unexpected long survival.

Zlatohlávek L et al.

Frontiers in Cardiovascular Medicine, 2025

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

Molecular modeling of LDLR aids interpretation of genomic variants.

Klee EW et al.

Journal of Molecular Medicine (berlin, Germany), 2019

30778614 (PubMed )
Supplement: 109_2019_1755_MOESM1_ESM.xlsx › TableS1

Effects of Genetic Variants Associated with Familial Hypercholesterolemia on Low-Density Lipoprotein-Cholesterol Levels and Cardiovascular Outcomes in the Million Veteran Program.

Sun YV et al.

Circulation. Genomic and Precision Medicine, 2018

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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."