Expanding the Mutational Spectrum of ACADVL : Integrative Characterization of the p.Ser72Phe Variant in Very Long-Chain Acyl-CoA Dehydrogenase Deficiency.

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Title: Expanding the Mutational Spectrum of ACADVL : Integrative Characterization of the p.Ser72Phe Variant in Very Long-Chain Acyl-CoA Dehydrogenase Deficiency.
Authors: Dinatolo, Francesca1 (AUTHOR), D'Antona, Lucia1,2 (AUTHOR), Procopio, Radha3 (AUTHOR), Rocca, Valentina1,4 (AUTHOR), Lo Feudo, Elisa1,4,5 (AUTHOR), Martino, Samuele1,6 (AUTHOR), Dattola, Adele1,7 (AUTHOR), Fabiani, Fernanda1 (AUTHOR), Colao, Emma1,2 (AUTHOR), Amato, Rosario1,2,3 (AUTHOR), Trapasso, Francesco1,4 (AUTHOR), Ruoppolo, Margherita5,6 (AUTHOR), Frisso, Giulia5,6 (AUTHOR), Concolino, Daniela7 (AUTHOR), Perrotti, Nicola1 (AUTHOR), Viglietto, Giuseppe1,4 (AUTHOR), Iuliano, Rodolfo1,2 (AUTHOR)
Source: Genes. Jun2026, Vol. 17 Issue 6, p649. 11p.
Database: Academic Search Ultimate
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ISSN:20734425
DOI:10.3390/genes17060649