Ontology highlight
ABSTRACT:
SUBMITTER: Koboldt DC
PROVIDER: S-EPMC7304350 | biostudies-literature | 2020 Jun
REPOSITORIES: biostudies-literature
Koboldt Daniel C DC Hickey Scott E SE Chaudhari Bimal P BP Mihalic Mosher Theresa T Bedrosian Tracy T Crist Erin E Kaler Stephen G SG McBride Kim K White Peter P Wilson Richard K RK
Cold Spring Harbor molecular case studies 20200612 3
Wilson disease is a medically actionable rare autosomal recessive disorder of defective copper excretion caused by mutations in <i>ATP7B</i>, one of two highly evolutionarily conserved copper-transporting ATPases. Hundreds of disease-causing variants in <i>ATP7B</i> have been reported to public databases; more than half of these are missense changes, and a significant proportion are presumed unequivocal loss-of-function variants (nonsense, frameshift, and canonical splice site). Current molecula ...[more]