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In addition to comparing our SNP calls to the HapMap genotypes, we compared them to all the SNPs that were annotated to our target region in the Ensembl variation database (http://www.ensembl.org).org
All the variants were entered in the Leiden Open Variation Database (http://databases.lovd.nl/shared/genes).nl/shared/genes
All variants identified in this study have been submitted to Leiden Open Variation Database (http://www.lovd.nl/CANT1).nl/CANT1
The variant c. 1861C > A, not previously described in the literature nor in the PALB2 variation database (http://www.lovd.nl/PALB2), was found in only one of the 436 cases and none of the 809 controls.
All six intronic alterations observed were single nucleotide changes, four of which were novel ones, whereas two had already been described earlier in the internet-based sequence variation database http://www.ncbi.nlm.nih.gov/projects/SNP/.nih.gov/projects/SNP/
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We registered the clinical information of each patient in the Leiden Open Variation Database (LOVD) (http://www.lovd.nl/3.0/home; http://databases.lovd.nl/shared/individuals), and the details of each microdeletion in the ClinVar Database (http://www.ncbi.nlm.nih.gov/clinvar/).nih.gov/clinvar/
HTS studies are highly reliant on ascribing likely pathogenicity according to mutational databases such as the Leiden Open Variation Database (LOVD, http://www.LOVD.nl/), The Human Gene Mutation Database (HGMD, http://www.hgmd.cf.ac.uk/) and ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/).nih.gov/clinvar/
Here we describe a broadly inclusive unifying Genome-wide Mycobacterium tuberculosis Variation (GMTV) database, (http://mtb.dobzhanskycenter.org) that catalogues genome variations of M. tuberculosis strains collected across Russia.
All ABCA4 variants reported in this manuscript were submitted to the ABCA4 LSDB (http://www.lovd.nl/ABCA4) at the Leiden Open Variation Database 3.0 (http://www.lovd.nl/3.0/home).nl/3.0/home
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.
A public database enlisting the reported mutations is available at the Leiden Open Variation Database (LVOD, http://www.ncbi.nlm.nih.gov/lovd/home.php?select_db=ABCC6), while neutral variants can be found in dbSNP (http://www.ncbi.nlm.nih.gov/SNP/).nih.gov/SNP/
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CEO of Professional Science Editing for Scientists @ prosciediting.com