LOVD v.2.0: the next generation in gene variant databases
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.21438/fullpdf
Reference18 articles.
1. Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome;Beales;Am J Hum Genet,2003
2. UMD (universal mutation database): a generic software to build and analyze locus-specific databases;Béroud;Hum Mut,2000
3. Time for a unified system of mutation description and reporting: a review of locus-specific mutation databases;Claustres;Genome Res,2002
4. Recommendations for locus-specific databases and their curation;Cotton;Hum Mutat,2008
5. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion;Den Dunnen;Hum Mutat,2000
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