与经典KBG综合征相关的ANKRD11中的一个剪接位点变异体。 - Suppr

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超能文献

A splice-site variant in ANKRD11 associated with classical KBG syndrome.

作者信息

Low Karen J, Hills Alison, Williams Maggie, Duff-Farrier Celia, McKee Shane, Smithson Sarah F

机构信息

University Hospitals Bristol NHS Trust, Bristol, England.

Bristol Genetics Laboratory, North Bristol NHS Trust, Bristol, England.

出版信息

Am J Med Genet A. 2017 Oct;173(10):2844-2846. doi: 10.1002/ajmg.a.38397. Epub 2017 Aug 17.

DOI:10.1002/ajmg.a.38397

PMID:28815928

Abstract

摘要

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