De novo variants in the PABP-domain of PABPC1 lead to developmental delay

被引：0

作者：

Wegler, Meret ^{[1
]}

Jia, Xiangbin ^{[2
,3
]}

Alders, Marielle ^{[4
]}

Bouman, Arjan ^{[4
]}

Chen, Jia ^{[2
,3
]}

Duan, Xinyu ^{[5
]}

Lauzon, Julie ^{[6
]}

Mathijssen, Inge B. ^{[4
]}

Sticht, Heinrich ^{[7
]}

Syrbe, Steffen ^{[8
]}

Tan, Senwei ^{[2
,3
]}

Guo, Hui ^{[2
,3
]}

Abou Jamra, Rami ^{[1
]}

机构：

[1] Univ Leipzig, Inst Human Genet, Fac Med, Leipzig, Germany

[2] Cent South Univ, Sch Life Sci, Ctr Med Genet, Changsha, Peoples R China

[3] Hunan Key Lab Med Genet, Changsha, Peoples R China

[4] Univ Amsterdam, Dept Human Genet, Amsterdam UMC, Amsterdam, Netherlands

[5] Army Med Univ, Daping Hosp, Dept Pediat, Chongqing, Peoples R China

[6] Univ Calgary, Cummings Sch Med, Alberta Childrens Hosp, Dept Med Genet, Calgary, AB, Canada

[7] Friedrich Alexander Univ Erlangen Nurnberg, Inst Biochem, Erlangen, Germany

[8] Univ Hosp, Div Pediat Epileptol, Ctr Pediat & Adolescent Med, Heidelberg, 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：

C28.3

引用

页码：76 / 76

页数：1

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