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FARS2 mutation and epilepsy: Possible link with early-onset epileptic encephalopathy.
Epilepsy Res. 2017 Jan;129:118-124. doi: 10.1016/j.eplepsyres.2016.11.022. Epub 2016 Dec 2.
Epilepsy Res. 2017.
PMID: 28043061
Review.
Hoyeraal-Hreidarsson syndrome with a DKC1 mutation identified by whole-exome sequencing.
Lim BC, Yoo SK, Lee S, Shin JY, Hwang H, Chae JH, Hwang YS, Seo JS, Kim JI, Kim KJ.
Lim BC, et al.
Gene. 2014 Aug 10;546(2):425-9. doi: 10.1016/j.gene.2014.06.011. Epub 2014 Jun 7.
Gene. 2014.
PMID: 24914498
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