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A Systematic Assessment of Accuracy in Detecting Somatic Mosaic Variants by Deep Amplicon Sequencing: Application to NF2 Gene.
Contini, Elisa; Paganini, Irene; Sestini, Roberta; Candita, Luisa; Capone, Gabriele Lorenzo; Barbetti, Lorenzo; Falconi, Serena; Frusconi, Sabrina; Giotti, Irene; Giuliani, Costanza; Torricelli, Francesca; Benelli, Matteo; Papi, Laura.
Afiliação
  • Contini E; Diagnostic Genetics Unit, Careggi University Hospital, Florence, Italy.
  • Paganini I; Department of Biomedical Experimental and Clinical Sciences, Medical Genetics, University of Florence, Florence, Italy.
  • Sestini R; Department of Biomedical Experimental and Clinical Sciences, Medical Genetics, University of Florence, Florence, Italy.
  • Candita L; Department of Biomedical Experimental and Clinical Sciences, Medical Genetics, University of Florence, Florence, Italy.
  • Capone GL; Department of Biomedical Experimental and Clinical Sciences, Medical Genetics, University of Florence, Florence, Italy.
  • Barbetti L; Department of Biomedical Experimental and Clinical Sciences, Medical Genetics, University of Florence, Florence, Italy.
  • Falconi S; Diagnostic Genetics Unit, Careggi University Hospital, Florence, Italy.
  • Frusconi S; Diagnostic Genetics Unit, Careggi University Hospital, Florence, Italy.
  • Giotti I; Diagnostic Genetics Unit, Careggi University Hospital, Florence, Italy.
  • Giuliani C; Diagnostic Genetics Unit, Careggi University Hospital, Florence, Italy.
  • Torricelli F; Diagnostic Genetics Unit, Careggi University Hospital, Florence, Italy.
  • Benelli M; Diagnostic Genetics Unit, Careggi University Hospital, Florence, Italy.
  • Papi L; Department of Biomedical Experimental and Clinical Sciences, Medical Genetics, University of Florence, Florence, Italy.
PLoS One ; 10(6): e0129099, 2015.
Article em En | MEDLINE | ID: mdl-26066488
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Neurofibromatose 2 / Genes da Neurofibromatose 2 / Polimorfismo de Nucleotídeo Único / Reação em Cadeia da Polimerase Multiplex / Mosaicismo Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Revista: PLoS One Assunto da revista: CIENCIA / MEDICINA Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Itália
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Neurofibromatose 2 / Genes da Neurofibromatose 2 / Polimorfismo de Nucleotídeo Único / Reação em Cadeia da Polimerase Multiplex / Mosaicismo Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Revista: PLoS One Assunto da revista: CIENCIA / MEDICINA Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Itália