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Public Library of Science, PLoS Genetics, 12(14), p. e1007845, 2018

DOI: 10.1371/journal.pgen.1007845

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Biallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequence

Journal article published in 2018 by Edith Bonnin, Pauline Cabochette, Alessandro Filosa ORCID, Ramona Jühlen ORCID, Shoko Komatsuzaki, Mohammed Hezwani, Achim Dickmanns, Valérie Martinelli, Marjorie Vermeersch, Lynn Supply, Nuno Martins ORCID, Laurence Pirenne ORCID, Gianina Ravenscroft ORCID, Marcus Lombard, Sarah Port ORCID and other authors.
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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