Exome sequencing identifies the cause of a mendelian disorder.
Ng SB; Buckingham KJ; Lee C; Bigham AW; Tabor HK; Dent KM; Huff CD; Shannon PT; Jabs EW; Nickerson DA; Shendure J; Bamshad MJ; Nature Genetics, 2010, vol. 42, issue 1, p 30, ISSN 15461718. ISBN 15461718.

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