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The Autism Chromosome Rearrangement Database is a collection of hand curated breakpoints and other genomic features, related to autism, taken from publicly available literature: databases and unpublished data. The database is continuously updated with information from in-house experimental data as well as data from published research studies.
A curated database of mutations and polymorphisms associated with Lafora Progressive Myoclonus Epilepsy. The Lafora progressive myoclonus epilepsy mutation and polymorphism database is a collection of hand curated mutation and polymorphism data for the EPM2A and EPM2B (NHLRC1) from publicly available literature: databases and unpublished data. The database is continuously updated with information from in-house experimental data as well as data from published research studies.
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Androgen Receptor Gene Mutations Database is for all who are interested in mutations of the Androgen Receptor Gene. In light of the difficulty in getting new AR mutations published the curator will now accept new mutations that have not been published, provided that it is from a reputable research or clinical laboratory. The curator also strongly suggests that where possible, particularly in the case of new unique mutations that an attempt be made to at least confirm the pathogenicity of the putatative mutation, by showing that the mutation when transfected into a suitable expression system produces a mutant androgen receptor protein.