Exome sequencing identifies the cause of a mendelian disorder
Huff, Chad D ; Jabs, Ethylin Wang ; Shendure, Jay ; Tabor, Holly K ; Nickerson, Deborah A ; Bamshad, Michael J ; Buckingham, Kati J ; Bigham, Abigail W ; Shannon, Paul T ; Lee, Choli ; Dent, Karin M ; Ng, Sarah B
Nature genetics, 2010-01, Vol.42 (1), p.30-35 [Periódico revisado por pares]New York, NY: Nature Publishing Group
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