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Kids First: CHARGE Syndrome, Related Conditions and Structural Anomalies. Kids First: CHARGE Syndrome, Related Conditions and Structural Anomalies

NIAID Data Ecosystem2026-03-12 收录

CHARGE综合征

先天性结构异常

数据链接：

https://www.ncbi.nlm.nih.gov/bioproject/PRJNA760561 数据链接链接失效反馈

官方服务：

资源简介：

To be updated

应用场景：

创建时间：

2021-09-03

相关数据集

FAIRsharing record for: CHD7 Database

基因突变数据库

CHARGE综合征

This FAIRsharing record describes: The CHD7 database contains locus-specific, anonymised mutation data on both published and unpublished variants of the CHD7 gene related to the CHARGE syndrome pheno

DataCite Commons2024-12-05 更新80

DataSheet1_Craniofacial and cardiac defects in chd7 zebrafish mutants mimic CHARGE syndrome.pdf

CHARGE综合征

斑马鱼模型

Congenital heart defects occur in almost 80% of patients with CHARGE syndrome, a sporadically occurring disease causing craniofacial and other abnormalities due to mutations in the CHD7 gene. Animal m

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Kismet Positively Regulates Glutamate Receptor Localization and Synaptic Transmission at the Drosophila Neuromuscular Junction

神经突触功能调控

CHARGE综合征

The Drosophila neuromuscular junction (NMJ) is a glutamatergic synapse that is structurally and functionally similar to mammalian glutamatergic synapses. These synapses can, as a result of changes in

Figshare2016-01-15 更新30

CHD7 mutation in a prenatal case of CHARGE syndrome

产前基因诊断

CHARGE综合征

Fetal exome sequencing was performed on a fetus with a variety of ultrasound and MRI findings and it revealed the presence of the novel c.2836-3C>G splicing mutation in CHD7 (Likely Pathogenic). CHARG

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Role of Chd7 in Zebrafish: A Model for CHARGE Syndrome

斑马鱼发育

CHARGE综合征

CHARGE syndrome is caused by mutations in the CHD7 gene. Several organ systems including the retina, cranial nerves, inner ear and heart are affected in CHARGE syndrome. However, the mechanistic link

NIAID Data Ecosystem30