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Variation in nomenclature of somatic variants for selection of oncological therapies: Can we reach a consensus soon?

A standardized nomenclature for reporting oncology biomarker variants is key to avoid misinterpretation of results and unambiguous registration in clinical databases. External quality assessment (EQA) schemes have revealed a need for more consistent nomenclature use in clinical genetics. We evaluate...

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Publicado en:Hum Mutat
Autores principales: Keppens, Cleo, Tack, Véronique, Dufraing, Kelly, Rouleau, Etienne, Ligtenberg, Marjolijn J. L., Schuuring, Ed, Dequeker, Elisabeth M. C.
Formato: Artigo
Lenguaje:Inglês
Publicado: John Wiley and Sons Inc. 2019
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC6973115/
https://ncbi.nlm.nih.gov/pubmed/31553104
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23926
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