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Challenges in reporting pathogenic/potentially pathogenic variants in 94 cancer predisposing genes - in pediatric patients screened with NGS panels.
Chirita-Emandi, Adela; Andreescu, Nicoleta; Zimbru, Cristian G; Tutac, Paul; Arghirescu, Smaranda; Serban, Margit; Puiu, Maria.
Afiliación
  • Chirita-Emandi A; Center of Genomic Medicine, Medical Genetics Discipline, University of Medicine and Pharmacy "Victor Babes", Timisoara, 300041, Romania. adela.chirita@umft.ro.
  • Andreescu N; Regional Center of Medical Genetics Timis, Clinical Emergency Hospital for Children "Louis Turcanu", Timisoara, 300011, Romania. adela.chirita@umft.ro.
  • Zimbru CG; Center of Genomic Medicine, Medical Genetics Discipline, University of Medicine and Pharmacy "Victor Babes", Timisoara, 300041, Romania.
  • Tutac P; Regional Center of Medical Genetics Timis, Clinical Emergency Hospital for Children "Louis Turcanu", Timisoara, 300011, Romania.
  • Arghirescu S; Center of Genomic Medicine, Medical Genetics Discipline, University of Medicine and Pharmacy "Victor Babes", Timisoara, 300041, Romania.
  • Serban M; Department of Automation and Applied Informatics, Politehnica University Timisoara, 300006, Timisoara, Romania.
  • Puiu M; Center of Genomic Medicine, Medical Genetics Discipline, University of Medicine and Pharmacy "Victor Babes", Timisoara, 300041, Romania.
Sci Rep ; 10(1): 223, 2020 01 14.
Article en En | MEDLINE | ID: mdl-31937788
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Secuenciación de Nucleótidos de Alto Rendimiento / Mutación / Proteínas de Neoplasias / Neoplasias Tipo de estudio: Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Child / Female / Humans / Male Idioma: En Revista: Sci Rep Año: 2020 Tipo del documento: Article País de afiliación: Rumanía
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Secuenciación de Nucleótidos de Alto Rendimiento / Mutación / Proteínas de Neoplasias / Neoplasias Tipo de estudio: Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Child / Female / Humans / Male Idioma: En Revista: Sci Rep Año: 2020 Tipo del documento: Article País de afiliación: Rumanía