VariantValidator: Accurate validation, mapping, and formatting of sequence variation descriptions
Freeman, Peter J., Hart, Reece K., Gretton, Liam J., Brookes, Anthony J., Dalgleish, Raymond
Published in Human mutation (01.01.2018)
Published in Human mutation (01.01.2018)
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Author Correction: Standardizing variant naming in literature with VariantValidator to increase diagnostic rates
Freeman, Peter J., Wagstaff, John F., Fokkema, Ivo F. A. C., Cutting, Garry R., Rehm, Heidi L., Davies, Angela C., den Dunnen, Johan T., Gretton, Liam J., Dalgleish, Raymond
Published in Nature genetics (29.10.2024)
Published in Nature genetics (29.10.2024)
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Journal Article
Standardizing variant naming in literature with VariantValidator to increase diagnostic rates
Freeman, Peter J., Wagstaff, John F., Fokkema, Ivo F. A. C., Cutting, Garry R., Rehm, Heidi L., Davies, Angela C., den Dunnen, Johan T., Gretton, Liam J., Dalgleish, Raymond
Published in Nature genetics (02.10.2024)
Published in Nature genetics (02.10.2024)
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Journal Article