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A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.
Karbassi, Izabela; Maston, Glenn A; Love, Angela; DiVincenzo, Christina; Braastad, Corey D; Elzinga, Christopher D; Bright, Alison R; Previte, Domenic; Zhang, Ke; Rowland, Charles M; McCarthy, Michele; Lapierre, Jennifer L; Dubois, Felicita; Medeiros, Katelyn A; Batish, Sat Dev; Jones, Jeffrey; Liaquat, Khalida; Hoffman, Carol A; Jaremko, Malgorzata; Wang, Zhenyuan; Sun, Weimin; Buller-Burckle, Arlene; Strom, Charles M; Keiles, Steven B; Higgins, Joseph J.
Afiliación
  • Karbassi I; Quest Diagnostics, Athena Diagnostics, Marlborough, Massachusetts.
  • Maston GA; Quest Diagnostics, Athena Diagnostics, Marlborough, Massachusetts.
  • Love A; Quest Diagnostics, Athena Diagnostics, Marlborough, Massachusetts.
  • DiVincenzo C; Quest Diagnostics, Athena Diagnostics, Marlborough, Massachusetts.
  • Braastad CD; Quest Diagnostics, Athena Diagnostics, Marlborough, Massachusetts.
  • Elzinga CD; Quest Diagnostics, Athena Diagnostics, Marlborough, Massachusetts.
  • Bright AR; Quest Diagnostics, Athena Diagnostics, Marlborough, Massachusetts.
  • Previte D; Quest Diagnostics, Athena Diagnostics, Marlborough, Massachusetts.
  • Zhang K; Quest Diagnostics, Nichols Institute, San Juan Capistrano, California.
  • Rowland CM; Quest Diagnostics, Celera, Alameda, California.
  • McCarthy M; Quest Diagnostics, Athena Diagnostics, Marlborough, Massachusetts.
  • Lapierre JL; Quest Diagnostics, Athena Diagnostics, Marlborough, Massachusetts.
  • Dubois F; Quest Diagnostics, Athena Diagnostics, Marlborough, Massachusetts.
  • Medeiros KA; Quest Diagnostics, Athena Diagnostics, Marlborough, Massachusetts.
  • Batish SD; Quest Diagnostics, Athena Diagnostics, Marlborough, Massachusetts.
  • Jones J; Quest Diagnostics, Athena Diagnostics, Marlborough, Massachusetts.
  • Liaquat K; Quest Diagnostics, Athena Diagnostics, Marlborough, Massachusetts.
  • Hoffman CA; Quest Diagnostics, Athena Diagnostics, Marlborough, Massachusetts.
  • Jaremko M; Quest Diagnostics, Athena Diagnostics, Marlborough, Massachusetts.
  • Wang Z; Quest Diagnostics, Athena Diagnostics, Marlborough, Massachusetts.
  • Sun W; Quest Diagnostics, Nichols Institute, San Juan Capistrano, California.
  • Buller-Burckle A; Quest Diagnostics, Nichols Institute, San Juan Capistrano, California.
  • Strom CM; Quest Diagnostics, Nichols Institute, San Juan Capistrano, California.
  • Keiles SB; Quest Diagnostics, Nichols Institute, San Juan Capistrano, California.
  • Higgins JJ; Quest Diagnostics, Athena Diagnostics, Marlborough, Massachusetts.
Hum Mutat ; 37(1): 127-34, 2016 Jan.
Article en En | MEDLINE | ID: mdl-26467025
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Variación Genética / Programas Informáticos / Biología Computacional / Predisposición Genética a la Enfermedad / Genómica Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2016 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Variación Genética / Programas Informáticos / Biología Computacional / Predisposición Genética a la Enfermedad / Genómica Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2016 Tipo del documento: Article