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Nomenclature for the description of human sequence variations

den Dunnen, J. T.
Published in Human genetics. 2001, vol. 109, no. 1, p. 121-124
Abstract A nomenclature system has recently been suggested for the description of changes (mutations and polymorphisms) in DNA and protein sequences. These nomenclature recommendations have now been largely accepted. However, current rules do not yet cover all types of mutations, nor do they cover more complex mutations. This document lists the existing recommendations and summarizes suggestions for the description of additional, more complex changes. Another version of this paper has been published in Hum Mut 15:7-12, 2000.
Keywords Amino Acid SubstitutionDNA/geneticsGenetic VariationHumansMutationPolymorphism, GeneticProteins/geneticsRNA/geneticsRepetitive Sequences, Nucleic AcidSequence DeletionTerminology as Topic
PMID: 11479744
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DEN DUNNEN, J. T., ANTONARAKIS, Stylianos. Nomenclature for the description of human sequence variations. In: Human genetics, 2001, vol. 109, n° 1, p. 121-124. https://archive-ouverte.unige.ch/unige:8714

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Deposited on : 2010-07-12

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