SWI/SNF complex subunit SMARCC2 isoform X5 [Homo sapiens]

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Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals. [Genet Med. 2023]
Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals.
Bosch E, Popp B, Güse E, Skinner C, van der Sluijs PJ, Maystadt I, Pinto AM, Renieri A, Bruno LP, Granata S, et al. Genet Med. 2023 Nov; 25(11):100950. Epub 2023 Aug 5.
SMARCC2 mediates the regulation of DKK1 by the transcription factor EGR1 through chromatin remodeling to reduce the proliferative capacity of glioblastoma. [Cell Death Dis. 2022]
SMARCC2 mediates the regulation of DKK1 by the transcription factor EGR1 through chromatin remodeling to reduce the proliferative capacity of glioblastoma.
Li C, Wang T, Gu J, Qi S, Li J, Chen L, Wu H, Shi L, Song C, Li H, et al. Cell Death Dis. 2022 Nov 23; 13(11):990. Epub 2022 Nov 23.
Further supporting SMARCC2-related neurodevelopmental disorder through exome analysis and reanalysis in two patients. [Am J Med Genet A. 2022]
Further supporting SMARCC2-related neurodevelopmental disorder through exome analysis and reanalysis in two patients.
Li D, Downes H, Hou C, Hakonarson H, Zackai EH, Schrier Vergano SA, Bhoj EJ. Am J Med Genet A. 2022 Mar; 188(3):878-882. Epub 2021 Dec 8.

RefSeq genomic sequence
See the genomic reference sequence for the SMARCC2 gene (NG_047081.1).
RefSeq mRNA
See reference mRNA sequence for the SMARCC2 gene (XM_054373043.1).

SWI/SNF complex subunit SMARCC2 isoform X5 [Homo sapiens]
SWI/SNF complex subunit SMARCC2 isoform X5 [Homo sapiens]
gi|2462534010|ref|XP_054229018.1|

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