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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Detalhes bibliográficos
Publicado no:Cell Death Differ
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2020
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8166836/
https://ncbi.nlm.nih.gov/pubmed/33257846
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41418-020-00672-0
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