Recessive mutations in SLC35A3 cause early onset epileptic encephalopathy with skeletal defects.
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| Description | scientific article published in April 2017 |
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author: Renzo Guerrini Patrick May Elena Cellini Domenico Garozzo Katia Hardies Rudi Balling Arvid Suls Peter De Jonghe Sarah Weckhuysen Tiziana Pisano |
| Publication date | April 1, 2017 |
| Language | English |
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| Missing/wrong data? | Edit Wikidata item |