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Loss-of-function of activity-dependent neuroprotective prot..:
D'Incal, Claudio Peter
;
Annear, Dale John
;
Elinck, Ellen
...
European Journal of Human Genetics. 32 (2024) 6 - p. 630-638 , 2024
Link:
https://doi.org/10.1038/s41431-024-01556-4
RT Journal T1
Loss-of-function of activity-dependent neuroprotective protein (ADNP) by a splice-acceptor site mutation causes Helsmoortel–Van der Aa syndrome
UL https://suche.suub.uni-bremen.de/peid=cr-10.1038_s41431-024-01556-4&Exemplar=1&LAN=DE A1 D'Incal, Claudio Peter A1 Annear, Dale John A1 Elinck, Ellen A1 van der Smagt, Jasper J. A1 Alders, Mariëlle A1 Dingemans, Alexander J. M. A1 Mateiu, Ligia A1 de Vries, Bert B. A. A1 Vanden Berghe, Wim A1 Kooy, R. Frank PB Springer Science and Business Media LLC YR 2024 SN 1018-4813 SN 1476-5438 JF European Journal of Human Genetics VO 32 IS 6 SP 630 OP 638 LK http://dx.doi.org/https://doi.org/10.1038/s41431-024-01556-4 DO https://doi.org/10.1038/s41431-024-01556-4 SF ELIB - SuUB Bremen
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