UBA5

A homozygous UBA5 pathogenic variant causes a fatal congenital neuropathy
Macarena Cabrera-Serrano, David Joseph Coote, Dimitar Azmanov, Hayley Goullee, Erik Andersen, Catriona McLean, Mark Davis, Ryosuke Ishimura, Zornitza Stark, Jean-Michel Vallat, Masaaki Komatsu, Andrew Kornberg, Monique Ryan, Nigel G Laing, Gina Ravenscroft

Journal of Medical Genetics Dec 2020, 57 (12) 835-842; DOI: 10.1136/jmedgenet-2019-106496

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UBA5