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OMIM is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and updated daily. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, under the direction of Dr. Ada Hamosh. Its official home is omim.org.
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The Cystic Fibrosis Mutation Database (CFTR1) was initiated by the Cystic Fibrosis Genetic Analysis Consortium in 1989 to increase and facilitate communications among CF researchers, and is maintained by the Cystic Fibrosis Centre at the Hospital for Sick Children in Toronto. The specific aim of the database is to provide up to date information about individual mutations in the CFTR gene. In a major upgrade in 2010, all known CFTR mutations and sequence variants have been converted to the standard nomenclature recommended by the Human Genome Variation Society.
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The Alzheimer Disease & Frontotemporal Dementia Mutation Database (AD&FTDMDB) aims at collecting all known mutations in the genes related to Alzheimer disease (AD) and fromtotemporal dementias (FTD). Mutations are collected from the literature and from presentations at scientific meetings. In addition, mutations can be submitted to AD&FTDMDB at this web site.
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The Parkinson disease Mutation Database (PDmutDB) aims at collecting all known mutations in the genes related to Parkinson disease (PD). Mutations are collected from the literature and from presentations at scientific meetings. In addition, mutations can be submitted to PDmutDB at this web site.
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This site provides users with access to up-to-date information about mutations at the phenylalanine hydroxylase locus. Here you will have access to the content of the database in the form of electronic reports. The database is updated manually off-line by the curators to assure that no erroneous information is appended. The curators now also accept data electronically via the submission form.