Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.S691*
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LDLR

NM_000527.5:p.S691*

Associated Papers

Functional characterization of 16 variants found in the LDL receptor gene.

Konečná K et al.

Journal of Lipid Research, 2025

Genetic Spectrum and Cascade Screening of Familial Hypercholesterolemia in Routine Clinical Setting in Hong Kong.

Yip MK et al.

Genes, 2023

Effects of statins on the inducible degrader of low-density lipoprotein receptor in familial hypercholesterolemia.

Chan ML et al.

Endocrine Connections, 2022

35560019 (PubMed )
Supplement: supplementary_table_1.pdf

Molecular genetic background of an autosomal dominant hypercholesterolemia in the Czech Republic.

Tichý L et al.

Physiological Research, 2017

Shortcomings on genetic testing of Familial hypercholesterolemia (FH) in India: Can we collaborate to establish Indian FH registry?

Reddy LL et al.

Indian Heart Journal, 0

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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."