Mutation nomenclature in practice: Findi
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Sarah Berwouts; Michael A. Morris; Emmanuelle Girodon; Martin Schwarz; Manfred S
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Article
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2011
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John Wiley and Sons
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English
⚖ 214 KB
Currently, two nomenclature systems are in use to describe sequence variants for cystic fibrosis: the established traditional nomenclature system and the more recent Human Genome Variation Society (HGVS) nomenclature system. We have evaluated the use of both systems in the laboratory reports of 217