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De Novo Loss-of-Function Variants in STAG2 are Associated with Developmental Delay, Microcephaly and Congenital Anomalies
The cohesin complex is an evolutionarily conserved multi-subunit protein complex which regulates sister chromatid cohesion during mitosis and meiosis. Additionally, the cohesin complex regulates DNA replication, DNA repair, and transcription. The core of the complex consists of four subunits; SMC1A,...
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| Publicado no: | Am J Med Genet A |
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| Main Authors: | , , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7033032/ https://ncbi.nlm.nih.gov/pubmed/28296084 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.38207 |
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