Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.G373C
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LDLR

NM_000527.5:p.G373C

Associated Papers

Gene Mutation in Patients with Familial Hypercholesterolemia and Response to Alirocumab Treatment-A Single-Centre Analysis.

Rogozik J et al.

Journal of Clinical Medicine, 2024

Assessment of microvascular function and pharmacological regulation in genetically confirmed familial hypercholesterolemia.

Pajkowski M et al.

Microvascular Research, 2021

Higher Responsiveness to Rosuvastatin in Polygenic versus Monogenic Hypercholesterolaemia: A Propensity Score Analysis.

Mickiewicz A et al.

Life (basel, Switzerland), 2020

32443900 (PubMed )
Supplement: life-10-00073-s001.pdf

Mutation type classification and pathogenicity assignment of sixteen missense variants located in the EGF-precursor homology domain of the LDLR.

Galicia-Garcia U et al.

Scientific Reports, 2020

32015373 (PubMed )
Supplement: 41598_2020_58734_MOESM1_ESM.pdf

Aortic valve calcium score in hypercholesterolemic patients with and without low-density lipoprotein receptor gene mutation.

Gałąska R et al.

Plos One, 2018

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

Tichý L et al.

Physiological Research, 2017

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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."