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1 Ergebnisse
1
Heterozygous gain of function variants in a critical region..:
Taylor, Alan
;
Kashyape, Pawan S.
;
Jain, Ruchi
..
American Journal of Medical Genetics Part A. 191 (2023) 11 - p. 2723-2727 , 2023
Link:
https://doi.org/10.1002/ajmg.a.63390
RT Journal T1
Heterozygous gain of function variants in a critical region of RNF13 cause congenital microcephaly, epileptic encephalopathy, blindness, and failure to thrive
UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_ajmg.a.63390&Exemplar=1&LAN=DE A1 Taylor, Alan A1 Kashyape, Pawan S. A1 Jain, Ruchi A1 El Naofal, Maha A1 Tayoun, Ahmad Abou PB Wiley YR 2023 SN 1552-4825 SN 1552-4833 JF American Journal of Medical Genetics Part A VO 191 IS 11 SP 2723 OP 2727 LK http://dx.doi.org/https://doi.org/10.1002/ajmg.a.63390 DO https://doi.org/10.1002/ajmg.a.63390 SF ELIB - SuUB Bremen
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