RettBASE数据库介绍

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

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