De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis. (2021)
Attributed to:
MICA: NURTuRE - changing the landscape of renal medicine to foster a unified approach to stratified medicine
funded by
MRC
Abstract
No abstract provided
Bibliographic Information
Digital Object Identifier: http://dx.doi.org/10.1016/j.ajhg.2021.01.008
PubMed Identifier: 33508234
Publication URI: http://europepmc.org/abstract/MED/33508234
Type: Journal Article/Review
Volume: 108
Parent Publication: American journal of human genetics
Issue: 2
ISSN: 0002-9297