De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features: ATXN7L3 variants in developmental delay
Brain (London, England : 1878), 2024-05 [Peer Reviewed Journal]Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 0006-8950 ;EISSN: 1460-2156 ;DOI: 10.1093/brain/awae160 ;PMID: 38753057
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