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

页码：538 / 538

页数：1

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