Associated Papers
PCSK9 Variants in Familial Hypercholesterolemia: A Comprehensive Synopsis.
Guo Q et al.
Frontiers in Genetics, 2020
The Digenic Causality in Familial Hypercholesterolemia: Revising the Genotype-Phenotype Correlations of the Disease.
Kamar A et al.
Frontiers in Genetics, 2020
Usefulness of the genetic risk score to identify phenocopies in families with familial hypercholesterolemia?
Ghaleb Y et al.
European Journal of Human Genetics : Ejhg, 2018
New Sequencing technologies help revealing unexpected mutations in Autosomal Dominant Hypercholesterolemia.
Elbitar S et al.
Scientific Reports, 2018
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar
Exome sequencing in suspected monogenic dyslipidemias.
Stitziel NO et al.
Circulation. Cardiovascular Genetics, 2015
Select a paper to view details