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Variable population prevalence estimates of germline TP53 variants: a gnomAD-based analysis

Reports of variable cancer penetrance in Li-Fraumeni syndrome (LFS) have raised questions regarding the prevalence of pathogenic germline TP53 variants. We previously reported higher-than-expected population prevalence estimates in sequencing databases composed of individuals unselected for cancer h...

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Bibliografski detalji
Izdano u:Hum Mutat
Glavni autori: de Andrade, Kelvin C., Frone, Megan N., Wegman-Ostrosky, Talia, Khincha, Payal P., Kim, Jung, Amadou, Amina, Santiago, Karina M., Fortes, Fernanda P., Lemonnier, Nathanaël, Mirabello, Lisa, Stewart, Douglas R., Hainaut, Pierre, Kowalski, Luiz P., Savage, Sharon A., Achatz, Maria I.
Format: Artigo
Jezik:Inglês
Izdano: 2018
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6296902/
https://ncbi.nlm.nih.gov/pubmed/30352134
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23673
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