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5. Integrated facial analysis and targeted sequencing identifies a novel KDM6A pathogenic variant resul

Integrated facial analysis and targeted sequencing identifies a novel KDM6A pathogenic variant resul

来源 :生物组学研究杂志英文 | 被引量 : 0次 | 上传用户：blueskyjandy

【作 者】

：

ShiWeihui ChenYiyao ChenSongchang LiShuyuan ChangChunxin ZhangLanlan FeiHongjun HuangHefeng ZhangJunyu XuChenming 

【机 构】

：

InternationalPeaceMaternityandChildHealthHospital;InstituteofEmbryo-FetalOriginalAdultDisease,Affili

【出 处】

：

生物组学研究杂志英文

【发表日期】

：

2018年1期

【关键词】

：

facial analysis Kabuki syndrome type 2 RNA assay targeted sequencing 

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