Database : the journal of biological databases and curation
30937429
Personalized genomic medicine depends on integrated analyses that combine genetic and phenotypic data from individual patients with reference knowledge of the functional and clinical significance of sequence variants. Sources of this reference knowle...
Wilson's disease (WD) is an autosomal recessive disorder which is caused by poor excretion of copper in mammalian cells. In this review, various issues such as effective characterization of ATP7B genes, scope of gene network topology in genetic analy...
WD is caused by variants disrupting copper efflux resulting in excessive copper accumulation mainly in liver and brain. The diagnosis of WD is challenged by its variable clinical course, onset, morbidity, and variant type. Currently it is diagnosed...
Technology and health care : official journal of the European Society for Engineering and Medicine
39302398
BACKGROUND: Laryngeal cancer is a malignant tumor that originates from the mucous membrane of the larynx. Currently, the specific involvement mechanism of copper death in laryngeal cancer patients has not been deeply studied.
BACKGROUND: Advances in Next Generation Sequencing have made rapid variant discovery and detection widely accessible. To facilitate a better understanding of the nature of these variants, American College of Medical Genetics and Genomics and the Asso...