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De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis. (2021)

First Author: Weng PL

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