Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.D354N
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LDLR

NM_000527.5:p.D354N

Associated Papers

Clinical Evaluation of Patients with Genetically Confirmed Familial Hypercholesterolemia.

Aparicio A et al.

Journal of Clinical Medicine, 2023

Genetic Variant ABCC1 rs45511401 Is Associated with Increased Response to Statins in Patients with Familial Hypercholesterolemia.

Dagli-Hernandez C et al.

Pharmaceutics, 2022

35631530 (PubMed )
Supplement: pharmaceutics-14-00944-s001.zip › pharmaceutics-1634615-supplementary.pdf

Spectrum of mutations in index patients with familial hypercholesterolemia in Singapore: Single center study.

Pek SLT et al.

Atherosclerosis, 2018

Proteolytic cleavage of the hydrophobic domain in the CaVα2δ1 subunit improves assembly and activity of cardiac CaV1.2 channels.

Segura E et al.

The Journal of Biological Chemistry, 2017

A novel Thr56Met mutation of the autosomal recessive hypercholesterolemia gene associated with hypercholesterolemia.

Harada K et al.

Journal of Atherosclerosis and Thrombosis, 2010

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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."