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Deep Intronic ETFDH Variants Represent a Recurrent Pathogenic Event in Multiple Acyl-CoA Dehydrogenase Deficiency

Stefania Martino,Pietro D'Addabbo,Antonella Turchiano,Francesca Clementina Radio,Alessandro Bruselles,Viviana Cordeddu,Cecilia Mancini,Alessandro Stella,Nicola Laforgia,Donatella Capodiferro,Simonetta Simonetti,Rosanna Bagnulo,Orazio Palumbo,Flaviana Marzano, Ornella Tabaku,Antonella Garganese, Michele Stasi,Marco Tartaglia,Graziano Pesole,Nicoletta Resta

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES（2024）

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Key words
ETFDH,deep intronic variant,MADD,genome sequencing,RNA sequencing,pseudo-exon,transcript processing,splicing
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