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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 Zs Open Access
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|a Medizinische Bibliothek
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|a Stalke, Amelie
|4 aut
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| 245 |
1 |
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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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|b txt
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|b c
|2 rdamedia
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|i In
|t European Journal of Human Genetics
|g 27(2019)6, S. 879-887
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| 650 |
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|a Publikation <Klinikum Herford>
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|a Kinderklinik <Klinikum Herford>
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4 |
|a Klinikum Herford
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4 |
|a Zeitschriftenartikel
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| 700 |
1 |
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|a Pfister, Eva-Doreen
|4 aut
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|a Brackmann, Renate
|4 aut
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|a Department of Child and Adolescent Medicine, Klinikum Herford, Herford, Germany
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|a Klinikum Herford
|4 isb
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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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|a 20210302
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