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- Title
Nomenclature for the description of human sequence variations.
- Authors
den Dunnen, J T; Antonarakis, S E
- 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.
- Publication
Human genetics, 2001, Vol 109, Issue 1, p121
- ISSN
0340-6717
- Publication type
Journal Article
- DOI
10.1007/s004390100505