Loss of function mutations in SCN4A cause severe fetal hypokinesia or congenital myopathy
I. Zaharieva,M. G. Thor,E. Oates,C. Van Karnebeek,G. Hendson, E. Blom,N. Witting,M. Rasmussen,M. Gabbett,G. Ravenscroft,M. Sframeli,K. Suetterlin,A. Sarkozy,L. D'Argenzio,L. Hartley,E. Matthews,M. Pitt,J. Vissing,M. Ballegaard,C. Krarup, A. Slordahl,H. Halvorsen, C. Ye, L. Zhang,N. Lokken, U. Werlauf,M. Abdelsayed,M. R. Davis,L. Feng,R. Phadke,C. A. Sewry,J. E. Morgan,N. G. Laing,H. Vallance,P. Ruben,M. G. Hanna,S. Lewis,E-J. Kamsteeg,R. Mannikko,F. Muntoni NEUROMUSCULAR DISORDERS(2016)
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