Article

Phenotypic and Molecular Spectrum of Patients With Switch/sucrose Nonfermenting Complex-related Intellectual Disabilities in Korea

2021-09-08

Abstract excerpt

<h4>Background: </h4> The switch/sucrose nonfermenting (SWI/SNF) complex is an adenosine triphosphate (ATP)-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 disorder, including the Coffin–Siris syndrome (CSS), Nicolaides–Baraitser syndrome (NCBRS), and nonsyndromic intellectual...

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Literature Corpus work: d52f1c97-c3d3-56b6-806b-62568fd039af
DOI: 10.21203/rs.3.rs-518573/v1

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