EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndrome.
Tan S, Kermasson L, Hoslin A, Jaako P, Faille A, Acevedo-Arozena A, Lengline E, Ranta D, Poiree M, Fenneteau O, Ducou le Pointe H, Fumagalli S, Beaupain B, Nitschke P, Bole-Feysot C, de Villartay JP, Bellanne-Chantelot C, Donadieu J, Kannengiesser C, Warren AJ, Revy P
Blood. 2019 Jul 18;134(3):277-290. doi: 10.1182/blood.2018893404. Epub 2019 May 31.
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