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Simultaneous analysis of single nucleotide and structural variants through NGS using a targeted panel of genes involved in ocular congenital malformations

D. Aguilera-Garcia, L. Rodrigues Jacy da Silva,M. Tarilonte,P. Ramos, A. Gomez,C. Villaverde,J. Rosell,V. Lopez, J. Ballesta,E. Guillen,M. J. Trujillo-Tiebas,F. Blanco-Kelly,C. Ayuso,M. Corton

EUROPEAN JOURNAL OF HUMAN GENETICS（2018）

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