e.g., HRA000087; HRA000150
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HRA010849
Title:
Screening for De Novo Mutations and Clinical Phenotypes in Sporadic Families with Congenital Cataract
Release date:
2025-03-29
Description:
Screen sporadic families with congenital cataract to identify the families in which the disease is caused by gene mutations, and clarify the pathogenic genes and mutation sites. Analyze their genetic characteristics and clinical phenotype features to provide effective genetic counseling for patients.
Data Accessibility:   
Open access
BioProject:
PRJCA037551
Study type:
Disease Study
Disease name:
cataract
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Submitter:   Zhao Yune / zyehzeye@126.com
Organization:   Wenzhou Medical University
Submission date:   2025-03-24