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2021 5
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Characterization of POLE c.1373A > T p.(Tyr458Phe), causing high cancer risk.
Rocque MJ, Leipart V, Kumar Singh A, Mur P, Olsen MF, Engebretsen LF, Martin-Ramos E, Aligué R, Sætrom P, Valle L, Drabløs F, Otterlei M, Sjursen W. Rocque MJ, et al. Mol Genet Genomics. 2023 May;298(3):555-566. doi: 10.1007/s00438-023-02000-w. Epub 2023 Mar 1. Mol Genet Genomics. 2023. PMID: 36856825 Free PMC article.
Germline and Somatic Whole-Exome Sequencing Identifies New Candidate Genes Involved in Familial Predisposition to Serrated Polyposis Syndrome.
Soares de Lima Y, Arnau-Collell C, Díaz-Gay M, Bonjoch L, Franch-Expósito S, Muñoz J, Moreira L, Ocaña T, Cuatrecasas M, Herrera-Pariente C, Carballal S, Moreno L, Díaz de Bustamante A, Castells A, Bujanda L, Cubiella J, Rodríguez-Alcalde D, Balaguer F, Castellví-Bel S. Soares de Lima Y, et al. Cancers (Basel). 2021 Feb 23;13(4):929. doi: 10.3390/cancers13040929. Cancers (Basel). 2021. PMID: 33672345 Free PMC article.