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Re-Annotation of 191 Developmental and Epileptic Encephalopathy-Associated Genes Unmasks De Novo Variants in SCN1A

npj Genomic Medicine - United Kingdom
doi 10.1038/s41525-019-0106-7
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Abstract

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Categories
GeneticsMolecular Biology
Date

December 1, 2019

Authors
Charles A. StewardJolien RooversMarie-Marthe SunerJose M. GonzalezBarbara Uszczynska-RatajczakDmitri PervouchineStephen FitzgeraldMargarida ViolaHannah StambergerFadi F. HamdanBerten CeulemansPatricia LeroyCaroline NavaAnne LepineElectra TapanariDon KeillerStephen AbbsAlba Sanchis-JuanDetelina GrozevaAnthony S. RogersMark DiekhansRoderic GuigóRobert PetryszakBerge A. MinassianGianpiero CavalleriDimitrios VitsiosSlavé PetrovskiJennifer HarrowPaul FlicekF. Lucy RaymondNicholas J. LenchPeter De JongheJonathan M. MudgeSarah WeckhuysenSanjay M. SisodiyaAdam Frankish
Publisher

Springer Science and Business Media LLC

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