This article is part of the supplement: Proceedings of the European Conference on Computational Biology (ECCB) 2010 Workshop: Annotation, interpretation and management of mutations (AIMM)
A formalized description of the standard human variant nomenclature in Extended Backus-Naur Form
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* Corresponding author: Peter E M Taschner P.Taschner@lumc.nl
BMC Bioinformatics 2011, 12(Suppl 4):S5 doi:10.1186/1471-2105-12-S4-S5
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