孤立性Ebstein畸形中与心肌发育通路相关的遗传变异

资源简介

孤立性Ebstein畸形中与心肌发育通路相关的遗传变异

【数据集背景】

本数据集源站标题为《Genetic Variants in Isolated Ebstein Anomaly Implicated in Myocardial Development Pathways》。配套论文《Genetic Variants in Isolated Ebstein Anomaly Implicated in Myocardial Development Pathways》发表于 PLOS ONE（2016），DOI：10.1371/journal.pone.0165174。源站首次发布：2016-10-27。

【数据内容】

源站原始描述：Ebstein anomaly (EA) is a rare heart defect in which the tricuspid valve is malformed and displaced. The tricuspid valve abnormalities can lead to backflow of blood from the right ventricle to the right atrium, preventing proper circulation of blood to the lungs. Although the etiology of EA is largely unresolved, increased prevalence of EA in those with a family history of congenital heart disease suggests EA has a genetic component. Copy number variants (CNVs) are a major source of genetic vari…

【数据结构与技术规格】

文件数 10 个，合计 744.58 KB。S1 Fig.PDF：application/pdf，195.79 KB。S2 Fig.PDF：application/pdf，206.46 KB。S3 Fig.PDF：application/pdf，226.79 KB。数据集 DOI：10.1371/journal.pone.0165174。

【主题与分类】

源站学科分类：Biochemistry、Genetics、Pharmacology、Environmental Sciences not elsewhere classified、Ecology、Biological Sciences not elsewhere classified。主题标签：NOTCH、Rare sequence variants、novel pathway、heart disease、copy number variants、Genetic Variants、heart defect、genome-wide search、tricuspid valve、EA genes。

【适用方向】

源站学科分类标注为 Biochemistry、Genetics、Pharmacology、Environmental Sciences not elsewhere classified、Ecology、Biological Sciences not elsewhere classified。

【获取与许可】

源站页面：https://plos.figshare.com/articles/dataset/Genetic_Variants_in_Isolated_Ebstein_Anomaly_Implicated_in_Myocardial_Development_Pathways/4123569

使用许可：CC BY 4.0（https://creativecommons.org/licenses/by/4.0/）。

规范引用：Sicko, Robert J.; Browne, Marilyn L.; Rigler, Shannon L.; Druschel, Charlotte M.; Liu, Gang; Fan, Ruzong; et al. (2016). Genetic Variants in Isolated Ebstein Anomaly Implicated in Myocardial Development Pathways. PLOS ONE. Dataset

【使用注意】

· 源站最后修改于 2023-06-01，引用时请注意版本时效。