Publication: Identification and quantification of oligogenic loss-of-function disorders
Gestores bibliográficos
Compartir
item.contributor.advisor
ORCID:
Journal Title
Journal ISSN
Volume Title
Publisher
item.page.isbn
item.page.issn
item.page.issne
item.page.doiurl
item.page.extent
item.page.accessRights
Acceso abierto
item.page.other
item.page.references
Abstract
Purpose: Monogenic disorders can present clinically heterogeneous symptoms. We hypothesized that in patients with a monogenic disorder caused by a large deletion, frequently additional loss-of-functio...
Description
item.page.coverage.spatial
item.page.sponsorship
Citation
Stefanski A, Pérez-Palma E, Mrdjen M, McHugh M, Leu C, Lal D. Identification and quantification of oligogenic loss-of-function disorders. Genet Med. 2022 Mar;24(3):729-735. doi: 10.1016/j.gim.2021.10.026
Keywords
CNV , Epilepsy , Loss-of-function , Monogenic , Oligogenic
item.page.dc.rights
item.page.dc.rights.url
Estadísticas de uso
1 0,8 0,5 0,3 0
Agosto 2025Septiembre 2025Octubre 2025Noviembre 2025Diciembre 2025Enero 2026Febrero 2026