The UCL low-density lipoprotein receptor gene variant database: pathogenicity update.

Sarah LeighMarta FutemaRos WhittallAlison Taylor-BeadlingMaggie WilliamsJohan T den DunnenSteve E Humphries

Published in: Journal of medical genetics (2016)

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.

Keyphrases

low density lipoprotein
genome wide
biofilm formation
adverse drug
copy number
dna methylation
gene expression
staphylococcus aureus
cystic fibrosis
electronic health record