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Failure to Detect Mutations in U2AF1 due to Changes in the GRCh38 Reference Sequence
The U2AF1 gene is a core part of mRNA splicing machinery and frequently contains somatic mutations that contribute to oncogenesis in myelodysplastic syndrome, acute myeloid leukemia, and other cancers. A change introduced in the GRCh38 version of the human reference build prevents detection of mutat...
Autores principales: | , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
American Society for Investigative Pathology
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8950341/ https://www.ncbi.nlm.nih.gov/pubmed/35041928 http://dx.doi.org/10.1016/j.jmoldx.2021.10.013 |