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The ZNF9 protein contains 7 zinc finger domains and is believed to function as an RNA-binding protein. A CCTG expansion in intron 1 of the ZNF9 gene results in myotonic dystrophy type 2 (MIM 602668).[supplied by OMIM][3]
References
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↑Liquori CL, Ricker K, Moseley ML, Jacobsen JF, Kress W, Naylor SL, Day JW, Ranum LP (Aug 2001). "Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9". Science. 293 (5531): 864–7. doi:10.1126/science.1062125. PMID11486088.
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Margolis JM, Schoser BG, Moseley ML, Day JW, Ranum LP (Jun 2006). "DM2 intronic expansions: evidence for CCUG accumulation without flanking sequence or effects on ZNF9 mRNA processing or protein expression". Human Molecular Genetics. 15 (11): 1808–15. doi:10.1093/hmg/ddl103. PMID16624843.
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Gerbasi VR, Link AJ (Jun 2007). "The myotonic dystrophy type 2 protein ZNF9 is part of an ITAF complex that promotes cap-independent translation". Molecular & Cellular Proteomics. 6 (6): 1049–58. doi:10.1074/mcp.M600384-MCP200. PMID17327219.
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