Functional consequences of bi-allelic PNPT1 variants associated with multisystemic disease

Rocio Rius, Lisa G Riley, Nicole J. Van Bergen, Alison G Compton, David J Amor, Maina P. Kava, Shanti Balasubramaniam, Miriam Fanjul-Fernández, Mark J. Cowley, Michael C Fahey, Tiong Y Tan, David Ross Thorburn, John Christodoulou

Research output: Contribution to journalMeeting AbstractOtherpeer-review

Original languageEnglish
Pages (from-to)1352-1354
Number of pages2
JournalEuropean Journal of Human Genetics
Volume27
Issue numberSupplement 2
Publication statusPublished - Oct 2019
EventEuropean Society of Human Genetics Conference - Gothenburg, Sweden
Duration: 15 Jun 201918 Jun 2019
Conference number: 52

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