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endingPage 975
issn 0002-9297
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publicationName The American Journal of Human Genetics
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bibliographicCitation Suls A, Jaehn J, Kecskés A, Weber Y, Weckhuysen S, Craiu D, Siekierska A, Djémié T, Afrikanova T, Gormley P, von Spiczak S, Kluger G, Iliescu C, Talvik T, Talvik I, Meral C, Caglayan H, Giraldez B, Serratosa J, Lemke J, Hoffman-Zacharska D, Szczepanik E, Barisic N, Komarek V, Hjalgrim H, Møller R, Linnankivi T, Dimova P, Striano P, Zara F, Marini C, Guerrini R, Depienne C, Baulac S, Kuhlenbäumer G, Crawford A, Lehesjoki A, de Witte PM, Palotie A, Lerche H, Esguerra C, De Jonghe P, Helbig I, Hendrickx R, Holmgren P, Stephani U, Muhle H, Pendiziwiat M, Appenzeller S, Selmer K, Brilstra E, Koeleman B, Rosenow F, Leguern E, Sterbova K, Magdalena B, Rodica G, Arsene O, Diana B, Guerrero-Lopez R, Ortega L, Todorova A, Kirov A, Robbiano A, Arslan M, Yiş U, Ivanović V. De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome. The American Journal of Human Genetics. 2013 Nov;93(5):967–75. doi: 10.1016/j.ajhg.2013.09.017.
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date 2013-11-07-04:00^^<http://www.w3.org/2001/XMLSchema#date>
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https://pubmed.ncbi.nlm.nih.gov/24207121
https://doi.org/10.1016/j.ajhg.2013.09.017
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title De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome
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