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|a eng
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|a Zweigstelle: Medizinische Bibliothek
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|a Exemplar/Standort: Zs Open Access
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|a Exemplar/Standort: Medizinische Bibliothek
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|a Medizinische Bibliothek
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|a Stalke, Amelie
|4 aut
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|a Homozygous frame shift variant in ATP7B exon 1 leads to bypass of nonsense-mediated mRNA decay and to a protein capable of copper export
|h electronic
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|c 2019
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|i In
|t European Journal of Human Genetics
|g 27(2019)6, S. 879-887
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|a Publikation <Klinikum Herford>
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|a Kinderklinik <Klinikum Herford>
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|a Klinikum Herford
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|a Zeitschriftenartikel
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|a Pfister,Eva-Doreen
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|a Brackmann,Renate
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|a DepartmentofChildandAdolescentMedicine, Klinikum Herford, Herford, Germany
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|a KlinikumHerford
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|u https://doi.org/10.1038/s41431-019-0345-1
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|u https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6777614/
|z Volltext
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