数据库名称:RettBASE
数据库简述:RettSyndrome.org Variation Database
所属国家/地区:Australia
数据库主要信息:Welcome to the RettSyndrome.org (formerly the International Rett Syndrome Foundation, IRSF) MECP2 Variation Database (RettBASE), hosted by the Children’s Hospital Westmead. Our goal is to gather and curate mutation data related to Rett syndrome, allowing the development of accurate prevalence data for disease-causing mutations, providing a catalog of polymorphisms, and potentially allowing more accurate phenotype-genotype correlations to be drawn.RettBASE is a freely-available resource for mutation and polymorphism data pertaining to Rett syndrome and other related clinical disorders. Mutation information is collected from published literature and from our collaborators who submit data directly to us. All variant information is manually curated before inclusion in the database
建立年份:2003
联系信息:Contact information
University/Institution:
Childrens Hospital Westmead
Address:
Western Sydney Genetics Program, Childrens Hospital Westmead, Locked Bag 4001, Westmead, NSW 2145, Australia
City:
Sydney
Province/State:
NSW
Country/Region:
Australia
Contact name (PI/Team):
John Christodoulou
Contact email (PI/Helpdesk):
john.christodoulou@mcri.edu.au