Article
Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion.
Human mutation - 1 Jan 2000
den Dunnen J T, Antonarakis S E
Abstract excerpt
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...
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