Identification and functional characterization of a-47 intronic variant in KMT2D causing Kabuki syndrome

被引：0
|
作者：
Martinez-Gil, Nuria [1 ,2 ]
Campos, Berta [1 ,2 ]
Maria Cueto-Gonzalez, Anna [1 ]
Masas, Miriam [1 ]
Garcia-Arumi, Elena [1 ,2 ]
Tizzano, Eduardo [1 ,2 ]
机构：
[1] Hosp Univ Vall Hebron, Area Genet Clin & Mol AGCM, Barcelona, Spain
[2] Vall Hebron Inst Recerca VHIR, Grp Med Genet, Barcelona, Spain
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2024年 / 32卷
关键词：
D O I：
暂无
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
P12.039.D
引用
收藏
页码：538 / 538
页数：1
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