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Article

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

BMC medical genomics - 27 Oct 2021

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

Abstract excerpt

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 the Coffin-Siris syndrome (CSS), Nicolaides-Baraitser syndrome (NCBRS), and nonsyndromic intellectual disability....

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Identifiers

PMID: 34706719
DOI: 10.1186/s12920-021-01104-9
PMCID: PMC8555129

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Phenotypic and molecular spectra of patients with switch/sucrose nonfermenting complex-related intellectual disability disorders in Korea.PMID 34706719Read ↗

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