Deep intronic de novo germline EHMT1 variant in a patient with syndromic developmental delay

被引：0
|
作者：
Peters, Sophia [1 ]
Schmidt, Axel [1 ]
Bender, Tim [1 ,2 ]
Cremer, Kirsten [1 ]
Perne, Claudia [1 ]
Mangold, Elisabeth [1 ]
Raschke, Heidrun [1 ]
Heimbach, Andre [1 ]
Sivalingam, Sugirthan [3 ]
Krawitz, Peter [4 ]
Engels, Hartmut [1 ]
机构：
[1] Univ Bonn, Univ Hosp Bonn, Inst Human Genet, Sch Med, Bonn, Germany
[2] Univ Bonn, Univ Hosp Bonn, Ctr Rare Dis Bonn, Bonn, Germany
[3] Univ Bonn, Med Fac, Core Unit Bioinformat Data Anal, Bonn, Germany
[4] Univ Bonn, Inst Genom Stat & Bioinformat, Med Fac, Bonn, Germany
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2023年 / 31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：
EP09.016
引用
收藏
页码：173 / 173
页数：1
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