Somatic mosaicism in STAG2-associated cohesinopathies: Expansion of the genotypic and phenotypic spectrum

STAG2 is a component of the large, evolutionarily highly conserved cohesin complex, which has been linked to various cellular processes like genome organization, DNA replication, gene expression, heterochromatin formation, sister chromatid cohesion, and DNA repair. A wide spectrum of germline varian...

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Detalles Bibliográficos
Autores principales: Schmidt, Julia, Dreha-Kulaczewski, Steffi, Zafeiriou, Maria-Patapia, Schreiber, Marie-Kristin, Wilken, Bernd, Funke, Rudolf, Neuhofer, Christiane M, Altmüller, Janine, Thiele, Holger, Nürnberg, Peter, Biskup, Saskia, Li, Yun, Zimmermann, Wolfram Hubertus, Kaulfuß, Silke, Yigit, Gökhan, Wollnik, Bernd
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Cell and Developmental Biology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9710855/
https://www.ncbi.nlm.nih.gov/pubmed/36467423
http://dx.doi.org/10.3389/fcell.2022.1025332

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9710855/
https://www.ncbi.nlm.nih.gov/pubmed/36467423
http://dx.doi.org/10.3389/fcell.2022.1025332

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