Bi-allelic variants in DOHH, catalyzing the last step of hypusine biosynthesis, are associated with a neurodevelopmental disorder
| Description | |
| Date de publication | |
| Auteurs | Ziegler A, Steindl K, Hanner AS, Kumar Kar R, Prouteau C, Boland A, Deleuze JF, Coubes C, Bezieau S, Kury S, Maystadt I, Le Mao M, Lenaers G, Navet B, Faivre L, Tran Mau-Them F, Zanoni P, Chung WK, Rauch A, Bonneau D and Park MH |
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| Année | 2,022 |
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| Laboratoire | |
| Impact Factor | 11.04 |
| Institut | JACOB |
| url DOI | 10.1016/j.ajhg.2022.06.010 |