Nomenclature
Mutation nomenclature in practice: Findings and recommendations from the cystic fibrosis external quality assessment scheme.
Berwouts S, Morris MA, Girodon E, Schwarz M, Manfred S, Dequeker E., Human Mutation, 2011, Epub ahead of print
HGVS Nomenclature for the description of sequence variants
HUGO Mutation Database Initiative
Cystic Fibrosis Mutation Database
Standard mutation nomenclature in molecular diagnostics - Practical and educational challenges
Ogino S, Gulley M, den Dunnen JT, Wilson RB and the Association for molecular pathology training and education committee, Journal of Molecular Diagnostics, 2007, 9:1-6
Standardizing mutation nomenclature: why bother?
den Dunnen JT, Paalman MH, Human Mutation, 2003, 22:181-182
Mutation nomenclature extensions and suggestions to describe complex mutations
den Dunnen JT, Antonarakis SE, Human Mutation, 2000, 15:7-12
Last changed: 2011-11-16
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