De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke (2024)

First Author: Brunet T
Attributed to:  Pleiotropic disorders of mitochondrial translation funded by MRC

Abstract

No abstract provided

Bibliographic Information

Digital Object Identifier: http://dx.doi.org/10.1016/j.gim.2023.101013

Publication URI: http://dx.doi.org/10.1016/j.gim.2023.101013

Type: Journal Article/Review

Parent Publication: Genetics in Medicine

Issue: 2

ISSN: 1098-3600