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pro vyhledávání: '"Franziska Roessler"'
Autor:
Franziska Roessler, Anita E. Beck, Ball Susie, Bartolomaeus Tobias, Amber Begtrup, Saskia Biskup, Oana Caluseriu, Norman Delanty, Christine Fröhlich, Marie T. Greally, Maike Karnstedt, Chiara Klöckner, Joanne Kurtzberg, Susanna Schubert, Martin Schulze, Michael Weidenbach, Dominik S. Westphal, Maire White, Cordula M. Wolf, Jacob Zyskind, Bernt Popp, Vincent Strehlow
Publikováno v:
American Journal of Medical Genetics Part A. 191:469-478
The non-POU domain-containing octamer-binding (NONO) protein is involved in multiple steps of gene regulation such as RNA metabolism and DNA repair. Hemizygous pathogenic variants in the NONO gene were confirmed to cause a rare X-linked syndromic dis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7335cfebc481808448d1ab11f9b9a202
https://doi.org/10.1002/ajmg.a.63044
https://doi.org/10.1002/ajmg.a.63044
