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1 Ergebnisse
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First patient with mosaic NOTCH3 gene pathogenic variant. U..:
Moreno‐García, Marta
;
Arteche‐López, Ana Rosa
;
Álvarez‐Mora, María Isabel
...
American Journal of Medical Genetics Part A. 185 (2020) 2 - p. 591-595 , 2020
Link:
https://doi.org/10.1002/ajmg.a.61999
RT Journal T1
First patient with mosaic NOTCH3 gene pathogenic variant. Unrevealed mosaicisms and importance of their detection
UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_ajmg.a.61999&Exemplar=1&LAN=DE A1 Moreno‐García, Marta A1 Arteche‐López, Ana Rosa A1 Álvarez‐Mora, María Isabel A1 Palma Milla, Carmen A1 Quesada Espinosa, Juan Francisco A1 Lezana Rosales, José Miguel A1 Sánchez Calvín, María Teresa A1 Gómez Manjón, Irene A1 Gómez Rodríguez, María José A1 Mendez‐Guerrero, Antonio A1 Villarejo‐Galende, Alberto PB Wiley YR 2020 SN 1552-4825 SN 1552-4833 JF American Journal of Medical Genetics Part A VO 185 IS 2 SP 591 OP 595 LK http://dx.doi.org/https://doi.org/10.1002/ajmg.a.61999 DO https://doi.org/10.1002/ajmg.a.61999 SF ELIB - SuUB Bremen
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