Contribution of New Adenomatous Polyposis Predisposition Genes in an Unexplained Attenuated Spanish Cohort by Multigene Panel Testing

Attenuated adenomatous polyposis (AAP) is a heterogeneous syndrome in terms of clinical manifestations, heritability and etiology of the disease. Genetic heterogeneity and low penetrance alleles are probably the best explanation for this variability. Certainly, it is known that APC and MUTYH are hig...

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Publicat a:Sci Rep
Autors principals: Lorca, Víctor, Rueda, Daniel, Martín-Morales, Lorena, Fernández-Aceñero, María Jesús, Grolleman, Judith, Poves, Carmen, Llovet, Patricia, Tapial, Sandra, García-Barberán, Vanesa, Sanz, Julián, Pérez-Segura, Pedro, de Voer, Richarda M., Díaz-Rubio, Eduardo, de la Hoya, Miguel, Caldés, Trinidad, Garre, Pilar
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group UK 2019
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6614360/
https://ncbi.nlm.nih.gov/pubmed/31285513
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-019-46403-5
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