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Article

Identification and functional characterization of new missense SNPs in the coding region of the TP53 gene.

Cell death and differentiation - 1 May 2021

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

Abstract excerpt

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 germline TP53 variants are associated with multiple neoplastic diseases, and thus have come to serve as a paradigm for...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Tumor Suppressor Protein p53

Source

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Identifiers

PMID: 33257846
DOI: 10.1038/s41418-020-00672-0
PMCID: PMC8166836

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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