Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.C677Y
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LDLR

NM_000527.5:p.C677Y

Associated Papers

Improved Genetic Characterization of Hypercholesterolemia in Latvian Patients with Familial Hypercholesterolemia: A Combined Monogenic and Polygenic Approach Using Whole-Genome Sequencing.

Atava I et al.

International Journal of Molecular Sciences, 2024

The genetic spectrum of familial hypercholesterolemia in the central south region of China.

Xiang R et al.

Atherosclerosis, 2017

The panorama of familial hypercholesterolemia in Latin America: a systematic review.

Mehta R et al.

Journal of Lipid Research, 2016

Long-term atorvastatin-ezetimibe-probucol triple therapy for homozygous familial hypercholesterolaemia from early childhood.

Lin M et al.

Cardiology in the Young, 2016

Novel mutations of low-density lipoprotein receptor gene in China patients with familial hypercholesterolemia.

Fan LL et al.

Applied Biochemistry and Biotechnology, 2015

Analysis of sequence variations in the LDL receptor gene in Spain: general gene screening or search for specific alterations?

Blesa S et al.

Clinical Chemistry, 2006

Molecular basis of familial hypercholesterolemia in Brazil: Identification of seven novel LDLR gene mutations.

Salazar LA et al.

Human Mutation, 2002

LDLR Database (second edition): new additions to the database and the software, and results of the first molecular analysis.

Varret M et al.

Nucleic Acids Research, 1998

Genetic testing for familial hypercholesterolemia in Quebec, Canada: a single-centre retrospective cohort study.

Guerin A et al.

Cmaj Open, 0

37607748 (PubMed )
Supplement: open-2022-0108-2-at.pdf
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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."