Associated Papers
Limited-Variant Screening vs Comprehensive Genetic Testing for Familial Hypercholesterolemia Diagnosis.
Sturm AC et al.
Jama Cardiology, 2021
34037665 (PubMed )
Supplement: jamacardiol-e211301-s001.pdf
The UCL low-density lipoprotein receptor gene variant database: pathogenicity update.
Leigh S et al.
Journal of Medical Genetics, 2017
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
Low-density lipoprotein receptor gene familial hypercholesterolemia variant database: update and pathological assessment.
Usifo E et al.
Annals of Human Genetics, 2012
Multiplex ARMS analysis to detect 13 common mutations in familial hypercholesterolaemia.
Taylor A et al.
Clinical Genetics, 2007
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