Cystic Fibrosis European Network

Nomenclature

Mutation nomenclature in practice: Findings and recommendations from the cystic fibrosis external quality assessment scheme.Download PDF Document
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 variantsExit this website

HUGO Mutation Database InitiativeExit this website

Cystic Fibrosis Mutation DatabaseExit this website

Standard mutation nomenclature in molecular diagnostics - Practical and educational challengesExit this website
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?Exit this website
den Dunnen JT, Paalman MH, Human Mutation, 2003, 22:181-182

Mutation nomenclature extensions and suggestions to describe complex mutationsExit this website
den Dunnen JT, Antonarakis SE, Human Mutation, 2000, 15:7-12



Last changed: 2016-08-01


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