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

页码：173 / 173

页数：1

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