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Bi-allelic variants in DOHH, catalyzing the last step of hy..:
Ziegler, Alban
;
Steindl, Katharina
;
Hanner, Ashleigh S.
...
The American Journal of Human Genetics. 109 (2022) 8 - p. 1549-1558 , 2022
Link:
https://doi.org/10.1016/j.ajhg.2022.06.010
RT Journal T1
Bi-allelic variants in DOHH, catalyzing the last step of hypusine biosynthesis, are associated with a neurodevelopmental disorder
UL https://suche.suub.uni-bremen.de/peid=cr-10.1016_j.ajhg.2022.06.010&Exemplar=1&LAN=DE A1 Ziegler, Alban A1 Steindl, Katharina A1 Hanner, Ashleigh S. A1 Kar, Rajesh Kumar A1 Prouteau, Clément A1 Boland, Anne A1 Deleuze, Jean Francois A1 Coubes, Christine A1 Bézieau, Stéphane A1 Küry, Sébastien A1 Maystadt, Isabelle A1 Le Mao, Morgane A1 Lenaers, Guy A1 Navet, Benjamin A1 Faivre, Laurence A1 Tran Mau-Them, Frédéric A1 Zanoni, Paolo A1 Chung, Wendy K. A1 Rauch, Anita A1 Bonneau, Dominique A1 Park, Myung Hee PB Elsevier BV YR 2022 SN 0002-9297 JF The American Journal of Human Genetics VO 109 IS 8 SP 1549 OP 1558 LK http://dx.doi.org/https://doi.org/10.1016/j.ajhg.2022.06.010 DO https://doi.org/10.1016/j.ajhg.2022.06.010 SF ELIB - SuUB Bremen
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