Detection of clinically relevant copy number variants with whole-exome sequencing.
de Ligt J; Boone PM; Pfundt R; Vissers LE; Richmond T; Geoghegan J; O'Moore K; de Leeuw N; Shaw C; Brunner HG; Lupski JR; Veltman JA; Hehir-Kwa JY; Human Mutation, 2013, vol. 34, issue 10, p 1439, ISSN 10981004. ISBN 10981004.

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