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References

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  • den Dunnen JT, Antonarakis SE. 2000. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 15:712.
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  • Wildeman M, van Ophuizen E, den Dunnen JT, Taschner PE. 2008. Improving sequence variation descriptions in locus-specific mutation databases and the literature using the MUTation AnaLYZER (MUTALYZER) mutation nomenclature checker. Hum Mutat 29:613.