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Systematic Computational Identification of Variants That Activate Exonic and Intronic Cryptic Splice Sites.
Lee, Melissa; Roos, Patrick; Sharma, Neeraj; Atalar, Melis; Evans, Taylor A; Pellicore, Matthew J; Davis, Emily; Lam, Anh-Thu N; Stanley, Susan E; Khalil, Sara E; Solomon, George M; Walker, Doug; Raraigh, Karen S; Vecchio-Pagan, Briana; Armanios, Mary; Cutting, Garry R.
Affiliation
  • Lee M; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  • Roos P; Miner & Kasch, Severna Park, MD 21146, USA.
  • Sharma N; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  • Atalar M; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  • Evans TA; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  • Pellicore MJ; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  • Davis E; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  • Lam AN; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  • Stanley SE; Department of Oncology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  • Khalil SE; Department of Oncology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  • Solomon GM; Division of Pulmonary, Allergy, and Critical Care Medicine, University of Alabama at Birmingham, Birmingham, AL 35233 USA.
  • Walker D; Pediatric Pulmonary Medicine, Johns Hopkins University, Baltimore, MD 21205, USA.
  • Raraigh KS; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  • Vecchio-Pagan B; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  • Armanios M; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Oncology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  • Cutting GR; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA. Electronic address: gcutting@jhmi.edu.
Am J Hum Genet ; 100(5): 751-765, 2017 May 04.
Article in En | MEDLINE | ID: mdl-28475858
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genetic Variation / Nuclear Proteins / Cell Cycle Proteins / Cystic Fibrosis Transmembrane Conductance Regulator / Computational Biology / RNA Splice Sites Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans Language: En Journal: Am J Hum Genet Year: 2017 Type: Article Affiliation country: United States
Fulltext
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genetic Variation / Nuclear Proteins / Cell Cycle Proteins / Cystic Fibrosis Transmembrane Conductance Regulator / Computational Biology / RNA Splice Sites Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans Language: En Journal: Am J Hum Genet Year: 2017 Type: Article Affiliation country: United States