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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...

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Detalles Bibliográficos
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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
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