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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Détails bibliographiques
Publié dans:Cell Death Differ
Auteurs principaux: 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
Format: Artigo
Langue:Inglês
Publié: Nature Publishing Group UK 2020
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Article
Accès en ligne: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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