Exome sequencing identifies the cause of a mendelian disorder

Sarah B Ng, Kati J Buckingham, Choli Lee, Abigail W Bigham, Holly K Tabor, Karin M Dent, Chad D Huff, Paul T Shannon, Ethylin Wang Jabs, Deborah A Nickerson, Jay Shendure, Michael J Bamshad

Journal: Nature Genetics

Publisher: Springer Science and Business Media LLC

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