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Targeted enrichment of specific regions in the human genome by array hybridization.
Curr Protoc Hum Genet. 2010 Jul;Chapter 18:Unit 18.3. doi: 10.1002/0471142905.hg1803s66.
Curr Protoc Hum Genet. 2010.
PMID: 20582915
Free PMC article.
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.
Ng SB, Bigham AW, Buckingham KJ, Hannibal MC, McMillin MJ, Gildersleeve HI, Beck AE, Tabor HK, Cooper GM, Mefford HC, Lee C, Turner EH, Smith JD, Rieder MJ, Yoshiura K, Matsumoto N, Ohta T, Niikawa N, Nickerson DA, Bamshad MJ, Shendure J.
Ng SB, et al.
Nat Genet. 2010 Sep;42(9):790-3. doi: 10.1038/ng.646. Epub 2010 Aug 15.
Nat Genet. 2010.
PMID: 20711175
Free PMC article.
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