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A de novo frameshift variant in MED13 gene in a patient wit..:
Pantalone, Gloria
;
Mancardi, Maria Margherita
;
Rossi, Andrea
...
American Journal of Medical Genetics Part A. 194 (2024) 8 - p. , 2024
Link:
https://doi.org/10.1002/ajmg.a.63611
RT Journal T1
A de novo frameshift variant in MED13 gene in a patient with autism spectrum disorder and magnetic resonance imaging abnormalities mimicking tuberous sclerosis
UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_ajmg.a.63611&Exemplar=1&LAN=DE A1 Pantalone, Gloria A1 Mancardi, Maria Margherita A1 Rossi, Andrea A1 Romanelli, Roberta A1 Marasco, Elena A1 Carla, Marini PB Wiley YR 2024 SN 1552-4825 SN 1552-4833 JF American Journal of Medical Genetics Part A VO 194 IS 8 LK http://dx.doi.org/https://doi.org/10.1002/ajmg.a.63611 DO https://doi.org/10.1002/ajmg.a.63611 SF ELIB - SuUB Bremen
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