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Novel STAG1 Frameshift Mutation in a Patient Affected by a Syndromic Form of Neurodevelopmental Disorder

The cohesin complex is a large evolutionary conserved functional unit which plays an essential role in DNA repair and replication, chromosome segregation and gene expression. It consists of four core proteins, SMC1A, SMC3, RAD21, and STAG1/2, and by proteins regulating the interaction between the co...

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Detalles Bibliográficos
Autores principales:	Di Muro, Ester, Palumbo, Pietro, Benvenuto, Mario, Accadia, Maria, Di Giacomo, Marilena Carmela, Manieri, Sergio, Abate, Rosaria, Tagliente, Maria, Castellana, Stefano, Mazza, Tommaso, Carella, Massimo, Palumbo, Orazio
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2021
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8392311/ https://www.ncbi.nlm.nih.gov/pubmed/34440290 http://dx.doi.org/10.3390/genes12081116

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