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2018 | 1 |
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SCN8A mutation in a child presenting with seizures and developmental delays.
Cold Spring Harb Mol Case Stud. 2016 Nov;2(6):a001073. doi: 10.1101/mcs.a001073.
Cold Spring Harb Mol Case Stud. 2016.
PMID: 27900360
Free PMC article.
Whole-genome analysis for effective clinical diagnosis and gene discovery in early infantile epileptic encephalopathy.
Ostrander BEP, Butterfield RJ, Pedersen BS, Farrell AJ, Layer RM, Ward A, Miller C, DiSera T, Filloux FM, Candee MS, Newcomb T, Bonkowsky JL, Marth GT, Quinlan AR.
Ostrander BEP, et al.
NPJ Genom Med. 2018 Aug 13;3:22. doi: 10.1038/s41525-018-0061-8. eCollection 2018.
NPJ Genom Med. 2018.
PMID: 30109124
Free PMC article.
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