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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: MRC Strategic Award to establish an International Centre for Genomic Medicine in Neuromuscular Diseases funded by MRC

Abstract

No abstract provided

Bibliographic Information

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

PubMed Identifier: 37924258

Publication URI: http://europepmc.org/abstract/MED/37924258

Type: Journal Article/Review

Volume: 26

Parent Publication: Genetics in medicine : official journal of the American College of Medical Genetics

Issue: 2

ISSN: 1098-3600