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Reference Patent

Reference - List

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  • Search Condition : Filter (MeSH = Face / abnormalities*)
Species Resource RRC ID Title Journal Published Link
DNA material EGFP-ZBTB24 WT (mouse) (RDB18170) , EGFP-ZBTB24 WT (human) (RDB18184) 61102 Three novel ZBTB24 mutations identified in Japanese and Cape Verdean type 2 ICF syndrome patients. J Hum Genet 2013-7-1 Pubmed Full text
DNA material , Human and Animal Cells p3XFLAG-CDCA7 WT (RDB17374) , p3XFLAG-CDCA7 R274C (RDB17375) , p3XFLAG-HELLS WT (RDB17376) , p3XFLAG-HELLS Q699R (RDB17377) , DNMT3B px330 (RDB17378) , ZBTB24 px330 (RDB17379) , CDCA7 px330 (RDB17380) , HELLS px330 (RDB17381) , Ku80 px330 (RDB17382) , HEV0190 57325 CDCA7 and HELLS mutations undermine nonhomologous end joining in centromeric instability syndrome. J Clin Invest 2019-1-2 Pubmed Full text
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