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Evaluation of both exonic and intronic variants for effects on RNA splicing allows for accurate assessment of the effectiveness of precision therapies.
Joynt, Anya T; Evans, Taylor A; Pellicore, Matthew J; Davis-Marcisak, Emily F; Aksit, Melis A; Eastman, Alice C; Patel, Shivani U; Paul, Kathleen C; Osorio, Derek L; Bowling, Alyssa D; Cotton, Calvin U; Raraigh, Karen S; West, Natalie E; Merlo, Christian A; Cutting, Garry R; Sharma, Neeraj.
Afiliação
  • Joynt AT; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America.
  • Evans TA; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America.
  • Pellicore MJ; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America.
  • Davis-Marcisak EF; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America.
  • Aksit MA; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America.
  • Eastman AC; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America.
  • Patel SU; Division of Pulmonary and Critical Care Medicine, Department of Medicine, Johns Hopkins Hospital, Baltimore, Maryland, United States of America.
  • Paul KC; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America.
  • Osorio DL; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America.
  • Bowling AD; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America.
  • Cotton CU; Departments of Pediatrics, Physiology and Biophysics, Case Western Reserve University, Cleveland, Ohio, United States of America.
  • Raraigh KS; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America.
  • West NE; Division of Pulmonary and Critical Care Medicine, Department of Medicine, Johns Hopkins Hospital, Baltimore, Maryland, United States of America.
  • Merlo CA; Division of Pulmonary and Critical Care Medicine, Department of Medicine, Johns Hopkins Hospital, Baltimore, Maryland, United States of America.
  • Cutting GR; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America.
  • Sharma N; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America.
PLoS Genet ; 16(10): e1009100, 2020 10.
Article em En | MEDLINE | ID: mdl-33085659
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Splicing de RNA / Regulador de Condutância Transmembrana em Fibrose Cística / Fibrose Cística Idioma: En Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Splicing de RNA / Regulador de Condutância Transmembrana em Fibrose Cística / Fibrose Cística Idioma: En Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Estados Unidos