DNA endonuclease RBBP8 isoform X1 [Homo sapiens]

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A novel RBBP8(p.E281*) germline mutation is a predisposing mutation in familial hereditary cancer syndrome. [J Mol Med (Berl). 2023]
A novel RBBP8(p.E281*) germline mutation is a predisposing mutation in familial hereditary cancer syndrome.
Yan J, Wu J, Wang Y, Di X, Jiang H, Wen D, Li D, Zhang S. J Mol Med (Berl). 2023 Oct; 101(10):1255-1265. Epub 2023 Aug 24.
Prognostic Significance of mRNA Expression RBBP8 or Its Methylation in Gliomas. [Cell Mol Neurobiol. 2023]
Prognostic Significance of mRNA Expression RBBP8 or Its Methylation in Gliomas.
Liu Z, Cheng X, Lin S, Han Z, Jin H, Luan Z, Li P, Liang W, Qian R, Gao Y. Cell Mol Neurobiol. 2023 Jan; 43(1):409-422. Epub 2022 Feb 1.
A 24-generation-old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome. [Clin Genet. 2021]
A 24-generation-old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome.
Kaygusuz E, Khayyat AIA, Abdullah U, Budde BS, Asif M, Ahmed I, Makhdoom EUH, Sur-Erdem I, Baig JM, Khan MMA, et al. Clin Genet. 2021 Oct; 100(4):486-488. Epub 2021 Jul 16.

RefSeq genomic sequence
See the genomic reference sequence for the RBBP8 gene (NG_012121.2).
RefSeq mRNA
See reference mRNA sequence for the RBBP8 gene (XM_006722520.3).
RefSeq protein isoforms
See 24 reference sequence protein isoforms for the RBBP8 gene.

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