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Research Output

Meeting Abstract

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

Rius, R., Riley, L. G., Van Bergen, N. J., Compton, A. G., Amor, D. J., Kava, M. P., Balasubramaniam, S., Fanjul-Fernández, M., Cowley, M. J., Fahey, M. C., Tan, T. Y., Thorburn, D. R. & Christodoulou, J., Oct 2019, In : European Journal of Human Genetics. 27, Supplement 2, p. 1352-1354 2 p.

Research output: Contribution to journalMeeting AbstractOtherpeer-review