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Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition.
Eur J Hum Genet. 2017 Feb;25(2):183-191. doi: 10.1038/ejhg.2016.165. Epub 2016 Nov 30.
Eur J Hum Genet. 2017.
PMID: 27901041
Free PMC article.
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.
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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Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome.
Myers KA, White SM, Mohammed S, Metcalfe KA, Fry AE, Wraige E, Vasudevan PC, Balasubramanian M, Scheffer IE.
Myers KA, et al.
Epilepsy Res. 2018 Feb;140:166-170. doi: 10.1016/j.eplepsyres.2018.01.014. Epub 2018 Feb 3.
Epilepsy Res. 2018.
PMID: 29367179
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