Biallelic Mutations in MTPAP Associated with a Lethal Encephalopathy

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Authors: Lien Van Eyck, Francesco Bruni, Anne Ronan, Tracy A. Briggs, Tony Roscioli, Gillian I. Rice, Grace Vassallo, Mathieu P. Rodero, Langping He, Robert W. Taylor, John H. Livingston, Zofia M. A. Chrzanowska-Lightowlers, Yanick J. Crow

Journal title: Neuropediatrics

Journal number: 51/03

Journal publisher: Georg Thieme Verlag

Published year: 2020

Published pages: 178-184

DOI identifier: 10.1055/s-0039-3400979

ISSN: 0174-304X