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A de novo nonsense mutation in ASXL3 shared by siblings with Bainbridge-Ropers syndrome.
Koboldt DC, Mihalic Mosher T, Kelly BJ, Sites E, Bartholomew D, Hickey SE, McBride K, Wilson RK, White P. Koboldt DC, et al. Among authors: hickey se. Cold Spring Harb Mol Case Stud. 2018 Jun 1;4(3):a002410. doi: 10.1101/mcs.a002410. Print 2018 Jun. Cold Spring Harb Mol Case Stud. 2018. PMID: 29305346 Free PMC article.
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