Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.M1I
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LDLR

NM_000527.5:p.M1I

Associated Papers

Evolocumab Treatment in Pediatric Patients With Homozygous Familial Hypercholesterolemia: Pooled Data From Three Open-Label Studies.

Raal FJ et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2024

38545781 (PubMed )
Supplement: atv-44-1156-s001.pdf

OptiMo-LDLr: An Integrated In Silico Model with Enhanced Predictive Power for LDL Receptor Variants, Unraveling Hot Spot Pathogenic Residues.

Larrea-Sebal A et al.

Advanced Science (weinheim, Baden-wurttemberg, Germany), 2024

38258479 (PubMed )
Supplement: ADVS-11-2305177-s001.pdf

Spectrum of mutations in Italian patients with familial hypercholesterolemia: New results from the LIPIGEN study.

Pirillo A et al.

Atherosclerosis. Supplements, 2017

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

Tichý L et al.

Physiological Research, 2017

Nucleotide variation of sFRP5 gene is not associated with obesity in children and adolescents.

Van Camp JK et al.

Molecular Biology Reports, 2016

The apolipoprotein epsilon4 allele confers additional risk in children with familial hypercholesterolemia.

Wiegman A et al.

Pediatric Research, 2003

Nephrogenic diabetes insipidus: functional analysis of new AVPR2 mutations identified in Italian families.

Albertazzi E et al.

Journal of the American Society of Nephrology : Jasn, 2000

Variation in the PPARalpha gene is associated with altered function in vitro and plasma lipid concentrations in Type II diabetic subjects.

Flavell DM et al.

Diabetologia, 2000

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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."