RettBASE

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

欢迎访问由韦斯特米德儿童医院托管的RettSyndrome.org（前身为国际雷特综合征基金会，IRSF）MECP2变异数据库（RettBASE）。本数据库的目标为收集并整理与雷特综合征相关的突变数据，以精准构建致病突变的患病率统计数据、编制多态性目录，并助力开展更精准的表型-基因型关联分析。RettBASE是一款面向雷特综合征及其他相关临床疾病的突变与多态性数据的免费开放资源。突变信息采集自已发表的学术文献，以及直接向本库提交数据的合作方。所有变异信息在纳入数据库前均经过人工审核与整理。

搜集汇总

背景与挑战

背景概述

RettBASE是一个免费开放的数据库，专门收集和整理Rett综合征及相关疾病的突变和多态性数据，旨在支持疾病研究和临床诊断。