Article
Mutation nomenclature.
Current protocols in human genetics - 1 Aug 2003
den Dunnen Johan T, Antonarakis Stylianos E
Abstract excerpt
As part of the Human Genome Variation Society (formerly known as the HUGO Mutation Database Initiative), a committee was formed to suggest standards for the description of sequence variants in DNA, RNA, and protein sequences. The committee proposed that the nomenclature should be unequivocal, precise, and short, and should prevent any possible confusion and follow existing practice as much as possible. To "spread...
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