Characterization of POLE c.1373A > T p.(Tyr458Phe), causing high cancer risk

The cancer syndrome polymerase proofreading-associated polyposis results from germline mutations in the POLE and POLD1 genes. Mutations in the exonuclease domain of these genes are associated with hyper- and ultra-mutated tumors with a predominance of base substitutions resulting from faulty proofre...

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Detalles Bibliográficos
Autores principales: Rocque, Mariève J., Leipart, Vilde, Kumar Singh, Ashish, Mur, Pilar, Olsen, Maren F., Engebretsen, Lars F., Martin-Ramos, Edgar, Aligué, Rosa, Sætrom, Pål, Valle, Laura, Drabløs, Finn, Otterlei, Marit, Sjursen, Wenche
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2023
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10133059/
https://www.ncbi.nlm.nih.gov/pubmed/36856825
http://dx.doi.org/10.1007/s00438-023-02000-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10133059/
https://www.ncbi.nlm.nih.gov/pubmed/36856825
http://dx.doi.org/10.1007/s00438-023-02000-w

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