相关实验视频

Updated: Jul 16, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

33.8K

[对患有视力缩和全球发育迟缓的儿童的NR2F1基因变异的分析]

Yang Tian1, Jiahao Cai, Xufang Li

  • 1Department of Neurology, Guangzhou Women and Children's Medical Center, Guangzhou, Guangdong 510623, China. gzchcwx@126.com.

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
|September 20, 2023
PubMed
概括

遗传分析在患有视力缩和全球发育迟缓的儿童中发现了一种致病性NR2F1基因变异 (c.425G>C),扩大了已知的博世-博恩斯特拉-施阿夫综合征谱.

更多相关视频

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

9.8K
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila00:06

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

13.7K

相关概念视频

Genetic Lingo01:11

Genetic Lingo

Overview
103.1K