Zobrazeno 1 - 2
of 2
pro vyhledávání: '"SMC1A-DEE"'
Phenotypes and Genotypes in Patients with SMC1A -Related Developmental and Epileptic Encephalopathy.
Autor:
Bozarth, Xiuhua L., Lopez, Jonathan, Fang, He, Lee-Eng, Jacqueline, Duan, Zhijun, Deng, Xinxian
Publikováno v:
Genes; Apr2023, Vol. 14 Issue 4, p852, 15p
Publikováno v:
Genes; Volume 14; Issue 4; Pages: 852
The X-linked SMC1A gene encodes a core subunit of the cohesin complex that plays a pivotal role in genome organization and gene regulation. Pathogenic variants in SMC1A are often dominant-negative and cause Cornelia de Lange syndrome (CdLS) with grow
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5de50366a139a2250dcb6d2287c77bb1
https://doi.org/10.3390/genes14040852
https://doi.org/10.3390/genes14040852