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Identification and functional characterization of new missense SNPs in the coding region of the TP53 gene
Infrequent and rare genetic variants in the human population vastly outnumber common ones. Although they may contribute significantly to the genetic basis of a disease, these seldom-encountered variants may also be miss-identified as pathogenic if no correct references are available. Somatic and ger...
Autores principales: | Doffe, Flora, Carbonnier, Vincent, Tissier, Manon, Leroy, Bernard, Martins, Isabelle, Mattsson, Johanna S. M., Micke, Patrick, Pavlova, Sarka, Pospisilova, Sarka, Smardova, Jana, Joerger, Andreas C., Wiman, Klas G., Kroemer, Guido, Soussi, Thierry |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8166836/ https://www.ncbi.nlm.nih.gov/pubmed/33257846 http://dx.doi.org/10.1038/s41418-020-00672-0 |
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