A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease. (2022)

Bibliographic Information

Digital Object Identifier: http://dx.doi.org/10.1016/j.gim.2022.07.013

PubMed Identifier: 36001086

Publication URI: http://europepmc.org/abstract/MED/36001086

Type: Journal Article/Review

Volume: 24

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

Issue: 10

ISSN: 1098-3600