De Novo Variants in MED12 Cause X-linked Syndromic Neurodevelopmental Disorders in 18 Females
D. L. Polla,E. J. Bhoj,J. B. G. M. Verheij,J. S. Klein Wassink-Ruiter,A. Reis,C. Deshpande,A. Gregor, K. Hill-Karfe,A. T. Vulto-van Silfhout,R. Pfundt,E. M. H. F. Bongers,H. Hakonarson,S. Berland, G. Gradek,S. Banka,K. Chandler, L. Gompertz, S. C. Huffels,C. T. R. M. Stumpel, R. Wennekes,A. P. A. Stegmann,W. Reardon,E. K. S. M. Leenders,B. B. A. de Vries,D. Li,E. Zackai,N. Ragge,S. A. Lynch,S. Cuddapah,H. van Bokhoven,C. Zweier,A. P. M. de Brouwer Genetics in Medicine(2020)
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