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Allele-specific expression of APC in adenomatous polyposis families.

artículo científico publicado en 2010

Biallelic NTHL1 Mutations in a Woman with Multiple Primary Tumors

article

Characterization of a novel founderMSH6mutation causing Lynch syndrome in the French Canadian population

article

Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type

artículo científico publicado en 2014

Lynch syndrome: five unanswered questions

artículo científico publicado en 2015

Mismatch repair genes founder mutations and cancer susceptibility in Lynch syndrome.

artículo científico publicado en 2014

Next-generation sequencing meets genetic diagnostics: development of a comprehensive workflow for the analysis of BRCA1 and BRCA2 genes

artículo científico publicado en 2012

Non-Hodgkin lymphoma related to hereditary nonpolyposis colorectal cancer in a patient with a novel heterozygous complex deletion in theMSH2 gene

article

Novel POLE pathogenic germline variant in a family with multiple primary tumors results in distinct mutational signatures

scientific article published on 20 November 2018

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