Journal article
InterRett and RettBASE: International Rett Syndrome Association databases for Rett syndrome
S Fyfe, A Cream, N de Klerk, J Christodoulou, H Leonard
Journal of Child Neurology | B C DECKER INC | Published : 2003
Abstract
In 2001, the International Rett Syndrome Association funded the establishment of a World Wide Web-based database to collect and display the genetic data of children and adults with Rett syndrome from around the world. RettBASE () encompasses both published and unpublished data; includes pathogenic mutations, benign polymorphisms, and sequence variations of uncertain significance; and has a range of query capabilities, allowing for simple or complex interrogation of the database. To undertake genotype-phenotype correlations and to identify the likely subtle differences in phenotype, detailed phenotype data on large samples will be provided by the International Rett Syndrome Association Intern..
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