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De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features. (2024)

First Author: Harel 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/10.1093/brain/awae160

PubMed Identifier: 38753057

Publication URI: http://europepmc.org/abstract/MED/38753057

Type: Journal Article/Review

Volume: 147

Parent Publication: Brain : a journal of neurology

Issue: 8

ISSN: 0006-8950