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HGMD has become the de facto central disease-associated mutation database available to the scientific community.
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The FH HUS mutation database is available at the following URL http://www.FH HUS.org.
The Alzheimer disease and frontotemporal dementia (AD&FTLD) and Parkinson disease (PD) Mutation Databases make available curated information of sequence variations in genes causing Mendelian forms of the most common neurodegenerative brain disease AD, frontotemporal lobar degeneration (FTLD), and PD.
Here we present a novel publicly available mutation database PDmutDB (http://www.molgen.ua.ac.be/PDmutDB).ua.ac.be/PDmutDB
We have constructed an integrated biological information system termed the Roche Cancer Genome Database (RCGDB) combining different human mutation databases already publicly available.
4 The current CF Foundation patient mutation database includes nearly double the number of CF patient chromosomes available for analysis in 2000.
In this work, we introduce Composite Kinase Mutation Database (CKMD), a single repository and integrated bioinformatics resource that consolidated and unequivocally mapped all currently available information on genetic variations in protein kinase genes with sequence, structural and functional data.
Although the proportion of frameshift mutations was higher than in the APC mutation database (Laurent-Puig et al, 1998), this probably resulted from detection bias in small, archival tumours, which were the only samples available from our patients.
We collated the information available for Parkin mutations from the Leiden Open Variation Database (LOVD; http://grenada.lumc.nl/LOVD2/TPI/home.php?select_db=PARK2), the Parkinson Disease mutation database (PDmutDB; (http://www.molgen.ua.ac.be/PDmutDB/default.cfm?MT=0&ML=0&Page=Home) and (Corti et al, 2011), and mapped mutations situated in the crystallized construct onto our structure.
"There are broadly two types of database available," says Wainewright.
HGMD, Human Gene Mutation Database.
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