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Page 1
Two CFTR mutations within codon 970 differently impact on the chloride channel functionality.
Hum Mutat. 2019 Jun;40(6):742-748. doi: 10.1002/humu.23741. Epub 2019 Mar 28.
Hum Mutat. 2019.
PMID: 30851139
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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