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De novo missense variants in the E3 ubiquitin ligase adapto..:
Sleyp, Yoeri
;
Valenzuela, Irene
;
Accogli, Andrea
...
Genetics in Medicine. 24 (2022) 12 - p. 2464-2474 , 2022
Link:
https://doi.org/10.1016/j.gim.2022.08.020
RT Journal T1
De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder
UL https://suche.suub.uni-bremen.de/peid=cr-10.1016_j.gim.2022.08.020&Exemplar=1&LAN=DE A1 Sleyp, Yoeri A1 Valenzuela, Irene A1 Accogli, Andrea A1 Ballon, Katleen A1 Ben-Zeev, Bruria A1 Berkovic, Samuel F. A1 Broly, Martin A1 Callaerts, Patrick A1 Caylor, Raymond C. A1 Charles, Perrine A1 Chatron, Nicolas A1 Cohen, Lior A1 Coppola, Antonietta A1 Cordeiro, Dawn A1 Cuccurullo, Claudia A1 Cuscó, Ivon A1 Janette diMonda A1 Duran-Romaña, Ramon A1 Ekhilevitch, Nina A1 Fernández-Alvarez, Paula A1 Gordon, Christopher T. A1 Isidor, Bertrand A1 Keren, Boris A1 Lesca, Gaetan A1 Maljaars, Jarymke A1 Mercimek-Andrews, Saadet A1 Morrow, Michelle M. A1 Muir, Alison M. A1 Rousseau, Frederic A1 Salpietro, Vincenzo PB Elsevier BV YR 2022 SN 1098-3600 JF Genetics in Medicine VO 24 IS 12 SP 2464 OP 2474 LK http://dx.doi.org/https://doi.org/10.1016/j.gim.2022.08.020 DO https://doi.org/10.1016/j.gim.2022.08.020 SF ELIB - SuUB Bremen
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