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http://mutdb.org/ - http://mutdb.org/
Public initiative to annotate genomic variants with data that assists in functional annotation. Offers tools to help determine which mutations are the most likely to be the underlying causative agents of disease. |
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RettBASE : MECP2 - http://mecp2.chw.edu.au/
Searchable database of known and novel MECP2 disease-causing mutations and polymorphisms. From the International Rett Syndrome Association. |
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The Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database - http://www.sesep.uvsq.fr/Database.html
Provide information about genetic variation of the alpl gene responsible for hypophosphatasia. Includes a downloadable list of genotypes and mutations . |
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http://www.tau.ac.il/lifesci/bioinfo/genedis/Genedis.html - http://www.tau.ac.il/lifesci/bioinfo/genedis/Genedis.html
Features the primary sequences of genes and proteins involved in human genetic diseases. The mutation table shows the location of the mutation on the cDNA, genomic DNA and protein sequence, and the number of exon or intron. Text partly in Hebrew. |
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ADAbase: Mutation registry for Adenosine Deaminase Deficiency - http://www.uta.fi/imt/bioinfo/ADAbase/
Features an introduction, submissions, publications, and an immunodeficiency resource. Includes a gene atlas for the ADA gene. |