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Title

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

Authors
den Dunnen, J. T.
Published in Human Mutation. 2000, vol. 15, no. 1, p. 7-12
Abstract Consistent gene mutation nomenclature is essential for efficient and accurate reporting, testing, and curation of the growing number of disease mutations and useful polymorphisms being discovered in the human genome. While a codified mutation nomenclature system for simple DNA lesions has now been adopted broadly by the medical genetics community, it is inherently difficult to represent complex mutations in a unified manner. In this article, suggestions are presented for reporting just such complex mutations.
Keywords Base SequenceCodonDnaExonsGenome, HumanHumansMutationPolymorphism, GeneticProteins/geneticsRNA/geneticsTerminology as Topic
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PMID: 10612815
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DEN DUNNEN, J. T., ANTONARAKIS, Stylianos. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. In: Human Mutation, 2000, vol. 15, n° 1, p. 7-12. https://archive-ouverte.unige.ch/unige:8713

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Deposited on : 2010-07-12

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