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pro vyhledávání: '"Lala V. Shailee"'
Autor:
Irena J.J. Muffels, Imre F. Schene, Holger Rehmann, Maarten P.G. Massink, Maria M. van der Wal, Corinna Bauder, Martha Labeur, Natalia G. Armando, Maarten H. Lequin, Michiel L. Houben, Jaques C. Giltay, Saskia Haitjema, Albert Huisman, Fleur Vansenne, Judith Bluvstein, John Pappas, Lala V. Shailee, Yuri A. Zarate, Michal Mokry, Gijs W. van Haaften, Edward E.S. Nieuwenhuis, Damian Refojo, Femke van Wijk, Sabine A. Fuchs, Peter M. van Hasselt
Publikováno v:
Am. J. Hum. Genet. 110, 146-160 (2023)
Am J Hum Genet
Am J Hum Genet
Neddylation has been implicated in various cellular pathways and in the pathophysiology of numerous diseases. We identified four individuals with bi-allelic variants in NAE1, which encodes the neddylation E1 enzyme. Pathogenicity was supported by dec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c527b80bc5f1809a16c16e4c32929181
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=67154
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=67154