Autosomal dominant Zellweger spectrum disorder caused by de novo variants in PEX14 gene
Autor: | Waterham, Hans R., Koster, Janet, Ebberink, Merel S., Ješina, Pavel, Zeman, Jiri, Nosková, Lenka, Kmoch, Stanislav, Devic, Perrine, Cheillan, David, Wanders, Ronald J.A., Ferdinandusse, Sacha |
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Zdroj: | In Genetics in Medicine November 2023 25(11) |
Databáze: | ScienceDirect |
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