Inborn Errors of Metabolism (IEM) - analytical validation of NGS assays for confirmative diagnostics

T. Simakova, M. Glushkova, A. Slepchenkov, Y. Churyumova, S. Shliaga, N. Vokhmianina,L. Porcaro, V. Caporale,A. Pavlov

EUROPEAN JOURNAL OF HUMAN GENETICS(2019)

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