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Pasquetti D, Marangi G, Orteschi D, Carapelle M, L’Erario FF, Venditti R, Maietta S, Battaglia DI, Contaldo I, Veredice C, et al. 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. Genes. 2023; 14(2):245. https://doi.org/10.3390/genes14020245

Pasquetti, Domizia, Giuseppe Marangi, Daniela Orteschi, Marina Carapelle, Federica Francesca L’Erario, Romina Venditti, Sabrina Maietta, Domenica Immacolata Battaglia, Ilaria Contaldo, Chiara Veredice, and et al. 2023. "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" Genes 14, no. 2: 245. https://doi.org/10.3390/genes14020245

Pasquetti, D., Marangi, G., Orteschi, D., Carapelle, M., L’Erario, F. F., Venditti, R., Maietta, S., Battaglia, D. I., Contaldo, I., Veredice, C., & Zollino, M. (2023). 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. Genes, 14(2), 245. https://doi.org/10.3390/genes14020245