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Article

Standard mutation nomenclature in molecular diagnostics: practical and educational challenges.

The Journal of molecular diagnostics : JMD - 1 Feb 2007

Ogino Shuji, Gulley Margaret L, den Dunnen Johan T, Wilson Robert B

Abstract excerpt

To translate basic research findings into clinical practice, it is essential that information about mutations and variations in the human genome are communicated easily and unequivocally. Unfortunately, there has been much confusion regarding the description of genetic sequence variants. This is largely because research articles that first report novel sequence variants do not often use standard nomenclature, and...

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Identifiers

PMID: 17251329
DOI: 10.2353/jmoldx.2007.060081
PMCID: PMC1867422

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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