Phenotypic and molecular spectra of patients with switch/sucrose nonfermenting complex-related intellectual disability disorders in Korea

BACKGROUND: The switch/sucrose nonfermenting (SWI/SNF) complex is an adenosine triphosphate-dependent chromatin-remodeling complex associated with the regulation of DNA accessibility. Germline mutations in the components of the SWI/SNF complex are related to human developmental disorders, including...

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Detalles Bibliográficos
Autores principales: Lee, Yena, Choi, Yunha, Seo, Go Hun, Kim, Gu-Hwan, Keum, Changwon, Kim, Yoo-Mi, Do, Hyo-Sang, Choi, Jeongmin, Choi, In Hee, Yoo, Han-Wook, Lee, Beom Hee
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8555129/
https://www.ncbi.nlm.nih.gov/pubmed/34706719
http://dx.doi.org/10.1186/s12920-021-01104-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8555129/
https://www.ncbi.nlm.nih.gov/pubmed/34706719
http://dx.doi.org/10.1186/s12920-021-01104-9

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