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1 Ergebnisse
1
Linear Diagnostic Procedure Elicited by Clinical Genetics a..:
Domizia Pasquetti
;
Giuseppe Marangi
;
Daniela Orteschi
...
https://www.mdpi.com/2073-4425/14/2/245. , 2023
Link:
https://doi.org/10.3390/genes14020245
RT Journal T1
Linear Diagnostic Procedure Elicited by Clinical Genetics and Validated by mRNA Analysis in Neuronal Ceroid Lipofuscinosis 7 Associated with a Novel Non-Canonical Splice Site Variant in MFSD8
UL https://suche.suub.uni-bremen.de/peid=base-ftdoajarticles:oai:doaj.org_article:3f9a43e1ff1d4635b2f0d6ffb4670395&Exemplar=1&LAN=DE A1 Domizia Pasquetti A1 Giuseppe Marangi A1 Daniela Orteschi A1 Marina Carapelle A1 Federica Francesca L'Erario A1 Romina Venditti A1 Sabrina Maietta A1 Domenica Immacolata Battaglia A1 Ilaria Contaldo A1 Chiara Veredice A1 Marcella Zollino PB MDPI AG YR 2023 K1 neurodevelopmental disorders K1 clinical genetics K1 MFSD8 K1 CNL7 K1 mRNA K1 Genetics K1 QH426-470 JF https://www.mdpi.com/2073-4425/14/2/245 LK http://dx.doi.org/https://doi.org/10.3390/genes14020245 DO https://doi.org/10.3390/genes14020245 SF ELIB - SuUB Bremen
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