Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.D57_T62delFs
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LDLR

NM_000527.5:p.D57_T62delFs

Associated Papers

A novel low-density lipoprotein receptor variant in a Ukrainian patient: a case report and overview of the disease-causing low-density lipoprotein receptor variants associated to familial hypercholesterolemia.

Moffa S et al.

Molecular Biology Reports, 2022

Clinical Implications of Monogenic Versus Polygenic Hypercholesterolemia: Long-Term Response to Treatment, Coronary Atherosclerosis Burden, and Cardiovascular Events.

D'Erasmo L et al.

Journal of the American Heart Association, 2021

33890476 (PubMed )
Supplement: JAH3-10-e018932-s001.pdf
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