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Bi-allelic variants in DOHH, catalyzing the last step of hypusine biosynthesis, are associated with a neurodevelopmental disorder

Publié le 2 octobre 2023
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
Revue
Année2 022
Institut
JACOB
Département / Service
CNRGH
Laboratoire
LBanq
Date de création 
Facteur Impact 
url DOI10.1016/j.ajhg.2022.06.010

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