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Abnormal function of the UBA5 protein in a case of early developmental and epileptic encephalopathy with suppression-burst
Mignon-Ravix, Cécile, Milh, Mathieu, Kaiser, Charlotte Sophia, Daniel, Jens, Riccardi, Florence, Cacciagli, Pierre, Nagara, Majdi, Busa, Tiffany, Liebau, Eva, Villard, LaurentLanguage:
english
Journal:
Human Mutation
DOI:
10.1002/humu.23534
Date:
April, 2018
File:
PDF, 849 KB
english, 2018