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Using systematic nomenclature for CFTR variants: Improvement needed

โœ Scribed by Johan den Dunnen

Book ID
102261328
Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
90 KB
Volume
32
Category
Article
ISSN
1059-7794

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โœ Martin Wildeman; Ernest van Ophuizen; Johan T. den Dunnen; Peter E.M. Taschner ๐Ÿ“‚ Article ๐Ÿ“… 2007 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 376 KB

## Communicated by Mireille Claustres Unambiguous and correct sequence variant descriptions are of utmost importance, not in the least since mistakes and uncertainties may lead to undesired errors in clinical diagnosis. We developed the Mutation Analyzer (Mutalyzer) sequence variation nomenclature