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Article

Mutation nomenclature in practice: findings and recommendations from the cystic fibrosis external quality assessment scheme.

Human mutation - 1 Nov 2011

Berwouts Sarah, Morris Michael A, Girodon Emmanuelle, Schwarz Martin, Stuhrmann Manfred, Dequeker Elisabeth

Abstract excerpt

Currently, two nomenclature systems are in use to describe sequence variants for cystic fibrosis: the established traditional nomenclature system and the more recent Human Genome Variation Society (HGVS) nomenclature system. We have evaluated the use of both systems in the laboratory reports of 217 participants in the cystic fibrosis external quality assessment scheme of 2009. The mutation c.1521_1523delCTT...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 21796730
DOI: 10.1002/humu.21569

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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