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Clinical and functional characterization of the CDH1 germline variant c.1679C>G in three unrelated families with hereditary diffuse gastric cancer.

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第一作者: Laura,Pena-Couso
第一单位: Familial Cancer Clinical Unit, Spanish National Cancer Research Centre (CNIO), Madrid, Spain. lpenac@cnio.es.
作者单位: Familial Cancer Clinical Unit, Spanish National Cancer Research Centre (CNIO), Madrid, Spain. lpenac@cnio.es. [1] Surgery Department, Hospital Universitario Fundación Jiménez Díaz, Madrid, Spain.;Instituto de Investigación Sanitaria, Fundación Jiménez Díaz, Madrid, Spain. [2] Instituto de Investigação e Inovação em Saúde (i3S), University of Porto, Porto, Portugal.;Institute of Molecular Pathology and Immunology (IPATIMUP), University of Porto, Porto, Portugal.;Medical Faculty, University of Porto, Porto, Portugal. [3] Familial Cancer Clinical Unit, Spanish National Cancer Research Centre (CNIO), Madrid, Spain. [4] Instituto de Investigação e Inovação em Saúde (i3S), University of Porto, Porto, Portugal.;Institute of Molecular Pathology and Immunology (IPATIMUP), University of Porto, Porto, Portugal. [5] Institute for Systems and Robotics, Instituto Superior Técnico, Lisboa, Portugal. [6] Medical Oncology Service, Hospital Universitario Puerta de Hierro, Madrid, Spain. [7] Medical Oncology Service, Hospital Universitario 12 de Octubre, Madrid, Spain. [8] Familial Cancer Clinical Unit, Spanish National Cancer Research Centre (CNIO), Madrid, Spain. murioste@cnio.es.;Centre for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain. murioste@cnio.es. [9]
DOI 10.1038/s41431-018-0173-8
PMID 29769627
发布时间 2019-04-03
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European journal of human genetics : EJHG

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