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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...

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Detalles Bibliográficos
Autores principales: Striker, Shawn S., Wilferd, Sierra F., Lewis, Erika M., O'Connor, Samantha A., Plaisier, Christopher L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
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