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Detection of clinically relevant mosaic findings in a total of 6,224 patients and parents in constitutional genome diagnostics using a genome-wide 250k SNP array analysis

Nicole de Leeuw,Rolph Pfundt,Jayne Y. Hehir-Kwa,Brigitte H. W. Faas, Tulla K. Rinne,Marlies J. E. Kempers,Sonja A. de Munnik,Nico F. A. Leijsten, Trudi C. Machielsen, Sabine L. J. van Gessel, Monique Wunderink, Martijn J. G. Banning,Ronald van Beek,Bert Ba De Vries,Dominique F. C. M. Smeets

CHROMOSOME RESEARCH（2011）

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关键词
250k SNP array analysis,mosaic,unaffected carrier
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