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Homozygous Frame Shift Variant in ATP7B Exon 1 Leads to Bypass of Nonsense-Mediated Mrna Decay and to a Protein Capable of Copper Export

Amelie Stalke,Eva-Doreen Pfister,Ulrich Baumann,Marlies Eilers,Vera Schäffer,Thomas Illig,Bernd Auber,Brigitte Schlegelberger, Renate Brackmann,Holger Prokisch,Simon Krooss,Jens Bohne,Britta Skawran

European Journal of Human Genetics（2019）

Cited 7|Views3
Key words
Disease genetics,Metabolic disorders,Molecular biology,Mutation,Biomedicine,general,Human Genetics,Bioinformatics,Gene Expression,Cytogenetics
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