Conference Proceedings

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

R Rius, LG Riley, NJ Van Bergen, AG Compton, DJ Amor, M Kava, S Balasubramaniam, M Fanjul-Fernandez, M Cowley, M Fahey, TY Tan, DR Thorburn, J Christodoulou

EUROPEAN JOURNAL OF HUMAN GENETICS | NATURE PUBLISHING GROUP | Published : 2019