Phenotypic and molecular spectra of patients with switch/sucrose nonfermenting complex-related intel...
Phenotypic and molecular spectra of patients with switch/sucrose nonfermenting complex-related intellectual disability disorders in Korea
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England: BioMed Central Ltd
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Language
English
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England: BioMed Central Ltd
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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 the Coffin-Siris syndrome (CSS), Nicolaides-Baraitser syndrome...
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Full title
Phenotypic and molecular spectra of patients with switch/sucrose nonfermenting complex-related intellectual disability disorders in Korea
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TN_cdi_doaj_primary_oai_doaj_org_article_f92541cb745f4e59a75024cc2e7bab11
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_f92541cb745f4e59a75024cc2e7bab11
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ISSN
1755-8794
E-ISSN
1755-8794
DOI
10.1186/s12920-021-01104-9
