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Germline homozygous missense DEPDC5 variants cause severe r..:
Ververi, Athina
;
Zagaglia, Sara
;
Menzies, Lara
...
Human Molecular Genetics. 32 (2022) 4 - p. 580-594 , 2022
Link:
https://doi.org/10.1093/hmg/ddac225
RT Journal T1
Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria
UL https://suche.suub.uni-bremen.de/peid=cr-10.1093_hmg_ddac225&Exemplar=1&LAN=DE A1 Ververi, Athina A1 Zagaglia, Sara A1 Menzies, Lara A1 Baptista, Julia A1 Caswell, Richard A1 Baulac, Stephanie A1 Ellard, Sian A1 Lynch, Sally A1 Jacques, Thomas S A1 Chawla, Maninder Singh A1 Heier, Martin A1 Kulseth, Mari Ann A1 Mero, Inger-Lise A1 Våtevik, Anne Katrine A1 Kraoua, Ichraf A1 Ben Rhouma, Hanene A1 Ben Younes, Thouraya A1 Miladi, Zouhour A1 Ben Youssef Turki, Ilhem A1 Jones, Wendy D A1 Clement, Emma A1 Eltze, Christin A1 Mankad, Kshitij A1 Merve, Ashirwad A1 Parker, Jennifer A1 Hoskins, Bethan A1 Pressler, Ronit A1 Sudhakar, Sniya A1 DeVile, Catherine A1 Homfray, Tessa PB Oxford University Press (OUP) YR 2022 SN 0964-6906 SN 1460-2083 JF Human Molecular Genetics VO 32 IS 4 SP 580 OP 594 LK http://dx.doi.org/https://doi.org/10.1093/hmg/ddac225 DO https://doi.org/10.1093/hmg/ddac225 SF ELIB - SuUB Bremen
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