Ubiquitin ligases of the N-END rule pathway: Assessment of mutations in UBR1 that cause the Johanson-Blizzard syndrome

Cheol Sang Hwang, Maja Sukalo, Olga Batygin, Marie Claude Addor, Han Brunner, Antonio Perez Aytes, Julia Mayerle, Hyun Kyu Song, Alexander Varshavsky, Martin Zenker

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