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Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia

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Description scientific article
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author: Vincent Timmerman  Patrick May  Holger Thiele  Bob Asselbergh  Peter Nürnberg  Rudi Balling  Peter De Jonghe  Nina Barisic  Sarah Weckhuysen  Dennis Lal 

Publication date September 17, 2015
Language English
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