Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy
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| Description | scientific journal article |
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author: Patrizia Amati-Bonneau Pascal Reynier Anne-Sophie Denommé-Pichon Pascale Bomont Vincent Procaccio Antonio Miranda-Vizuete Guy Lenaers Tobias B Haack Tim M Strom Majida Charif Thomas Meitinger Holger Prokisch Dominique Bonneau |
| Publication date | September 1, 2016 |
| Language | English |
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