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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.
Pasquetti D, Marangi G, Orteschi D, Carapelle M, L'Erario FF, Venditti R, Maietta S, Battaglia DI, Contaldo I, Veredice C, Zollino M. Pasquetti D, et al. Among authors: maietta s. Genes (Basel). 2023 Jan 17;14(2):245. doi: 10.3390/genes14020245. Genes (Basel). 2023. PMID: 36833170 Free PMC article.
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