Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy
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| Description | scientific article published on 30 January 2020 |
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author: Adam Claridge-Chang S. Gulsuner Fowzan S Alkuraya James C Stewart Ingo Helbig Tal Gilboa Laura E Schultz-Rogers Renske Oegema Marisa A Vineyard Tahsin Stefan Barakat Sabina Barresi Ajay S Mathuru Bruno Reversade Tyler Mark Pierson Sarah Weckhuysen Holger Hengel Élise Lebigot Byrappa Venkatesh |
| Publication date | January 30, 2020 |
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