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Systematic integration of protein-affecting mutations, gene fusions, and copy number alterations into a comprehensive somatic mutational profile
Somatic mutations occur as random genetic changes in genes through protein-affecting mutations (PAMs), gene fusions, or copy number alterations (CNAs). Mutations of different types can have a similar phenotypic effect (i.e., allelic heterogeneity) and should be integrated into a unified gene mutatio...
Autores principales: | Striker, Shawn S., Wilferd, Sierra F., Lewis, Erika M., O'Connor, Samantha A., Plaisier, Christopher L. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10162952/ https://www.ncbi.nlm.nih.gov/pubmed/37159661 http://dx.doi.org/10.1016/j.crmeth.2023.100442 |
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