The UCL low-density lipoprotein receptor gene variant database: pathogenicity update
Conclusions
This study updates the LDLR variant database and identifies a number of reported VUS where additional family and in vitro studies will be required to confirm or refute their pathogenicity.
Source: Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Leigh, S., Futema, M., Whittall, R., Taylor-Beadling, A., Williams, M., den Dunnen, J. T., Humphries, S. E. Tags: Open access, Lipid disorders, Metabolic disorders Original article Source Type: research