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Updated: Jun 11, 2025

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Standardizing variant naming in literature with VariantValidator to increase diagnostic rates

Peter J Freeman1,2, John F Wagstaff3,4, Ivo F A C Fokkema5

  • 1Division of Informatics, Imaging and Data Science, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK. peter.j.freeman@manchester.ac.uk.

Nature Genetics
|October 2, 2024
PubMed
Summary

No abstract available in PubMed .

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