NovelLDLRVariants in Patients with Familial Hypercholesterolemia:In SilicoAnalysis as a Tool to Predict Pathogenic Variants in Children and Their Families
Author:
Affiliation:
1. 1st Department of Pediatrics, Laboratory of Metabolic Diseases, Choremio Research Laboratory; University of Athens Medical School, “Aghia Sophia” Children's Hospital; Athens Greece
Funder
University of Athens
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/ahg.12032/fullpdf
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4. Prediction of Human mRNA Donor and Acceptor Sites from the DNA Sequence;Brunak;J Mol Biol,1991
5. I-Mutant2.0: predicting stability changes upon mutation from the protein sequence or structure;Capriotti;Nucleic Acids Res,2005
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3. Phenotypic characterization and predictive analysis of p.Asp47Asn LDL receptor mutation associated with Familial Hypercholesterolemia in a Chilean population;Journal of Clinical Lipidology;2021-03
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