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, 32 (11), 1197-1203.
HGVS Nomenclature for the description of sequence variants
Human Genome Variation Society databases
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: 2019-10-29
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