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Recessive variants in COL25A1 are responsible for arthrogryposis multiplex congenita with an ocular congenital cranial dysinnervation disorder

D. Natera-de Benito,I. Zaharieva,V. Pini,A. Manzur,P. Munot,S. Parker DiTroia,S. Di Gioia, J. Jurgens, B. Barry,E. England, D. Ledoux, A. ODonell-Luria,D. MacArthur, L. Feng,R. Phadke,A. Sarkozy, E. Engle, F. Muntoni

NEUROMUSCULAR DISORDERS（2020）

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