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Exome Sequencing in Individuals with Isolated Biliary Atresia.
Rajagopalan, Ramakrishnan; Tsai, Ellen A; Grochowski, Christopher M; Kelly, Susan M; Loomes, Kathleen M; Spinner, Nancy B; Devoto, Marcella.
Afiliación
  • Rajagopalan R; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Tsai EA; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Grochowski CM; Genomics and Computational Biology Graduate Group, The University of Pennsylvania, Philadelphia, PA, USA.
  • Kelly SM; Genetic Epidemiology Group, Department of Translational Biology, Biogen, Cambridge, MA, USA.
  • Loomes KM; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Spinner NB; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Devoto M; Division of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.
Sci Rep ; 10(1): 2709, 2020 02 17.
Article en En | MEDLINE | ID: mdl-32066793
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Atresia Biliar / Proteínas HSP90 de Choque Térmico / Mutación Missense / Exoma / Proteínas de Choque Térmico / Nucleotidiltransferasas Tipo de estudio: Observational_studies / Prognostic_studies / Risk_factors_studies Idioma: En Revista: Sci Rep Año: 2020 Tipo del documento: Article
Texto completo
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Atresia Biliar / Proteínas HSP90 de Choque Térmico / Mutación Missense / Exoma / Proteínas de Choque Térmico / Nucleotidiltransferasas Tipo de estudio: Observational_studies / Prognostic_studies / Risk_factors_studies Idioma: En Revista: Sci Rep Año: 2020 Tipo del documento: Article