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Title:          Role of POLE and POLD1 in familial cancer
Subject:        GENETICS in MEDICINE, doi:10.1038/s41436-020-0922-2
Keywords:       polymerase proofreading–associated polyposis; PPAP; exonuclease domain; ultramutated phenotype; hereditary colorectal cancer
Author:         Pilar Mur
Creator:        Springer
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      Title: Role of POLE and POLD1 in familial cancer
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       Item: 
        Title: INTRODUCTION
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       Item: 
        Title: MATERIALS AND METHODS
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          Title: Ethics statement
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          Title: Patients
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            Title: Retrospective cohort
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            Title: Prospective cohort
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          Title: Mutational screening
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          Title: In silico predictions
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          Title: Functional assessments for variant interpretation and classification
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        Title: RESULTS
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          Title: Phenotypic characteristics of carriers of ED variants
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          Title: Functional assessment of ED variants: exonuclease repair yeast-based assay and tumor analysis
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          Title: ED variant classification
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          Title: Germline loss-of-function POLE and POLD1 variants
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          Title: Variants identified outside the ED
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          Title: Tumor spectrum and prevalence of germline POLE and POLD1 ED variants in hereditary cancer
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        Title: DISCUSSION
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        Title: Supplementary information
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        Title: ACKNOWLEDGMENTS
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        Title: DISCLOSURE
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        Title: References
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    Title: Role of POLE and POLD1 in familial cancer
    Author: Pilar Mur
    Subject: GENETICS in MEDICINE, doi:10.1038/s41436-020-0922-2
    Keywords: polymerase proofreading associated polyposis; PPAP; exonuclease domain; ultramutated phenotype; hereditary colorectal cancer
    Creator: Springer
    CreationDate: Thu Nov 19 12:43:42 CET 2020
    ModDate: Thu Nov 19 12:44:01 CET 2020
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