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Genome-wide detection of human variants that disrupt intronic branchpoints.
Zhang, Peng; Philippot, Quentin; Ren, Weicheng; Lei, Wei-Te; Li, Juan; Stenson, Peter D; Palacín, Pere Soler; Colobran, Roger; Boisson, Bertrand; Zhang, Shen-Ying; Puel, Anne; Pan-Hammarström, Qiang; Zhang, Qian; Cooper, David N; Abel, Laurent; Casanova, Jean-Laurent.
Affiliation
  • Zhang P; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065.
  • Philippot Q; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, 75015 Paris, France.
  • Ren W; Paris Cité University, Imagine Institute, 75015 Paris, France.
  • Lei WT; Department of Biosciences and Nutrition, Karolinska Institutet, 14183 Huddinge, Sweden.
  • Li J; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065.
  • Stenson PD; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065.
  • Palacín PS; Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff CF14 4XN, United Kingdom.
  • Colobran R; Infection in Immunocompromised Pediatric Patients Research Group, Vall d'Hebron Research Institute, Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron University Hospital, 08035 Barcelona, Spain.
  • Boisson B; Pediatric Infectious Diseases and Immunodeficiencies Unit, Vall d'Hebron University Hospital, Vall d'Hebron Research Institute, Vall d'Hebron Barcelona Hospital Campus, Autonomous University of Barcelona, 08035 Barcelona, Spain.
  • Zhang SY; Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, 08035 Barcelona, Spain.
  • Puel A; Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, 08035 Barcelona, Spain.
  • Pan-Hammarström Q; Diagnostic Immunology Group, Vall d'Hebron Research Institute, Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron University Hospital, 08035 Barcelona, Spain.
  • Zhang Q; Immunology Division, Genetics Department, Vall d'Hebron University Hospital, Vall d'Hebron Barcelona Hospital Campus, Autonomous University of Barcelona, 08035 Barcelona, Spain.
  • Cooper DN; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065.
  • Abel L; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, 75015 Paris, France.
  • Casanova JL; Paris Cité University, Imagine Institute, 75015 Paris, France.
Proc Natl Acad Sci U S A ; 119(44): e2211194119, 2022 11.
Article in En | MEDLINE | ID: mdl-36306325
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: COVID-19 Type of study: Diagnostic_studies / Observational_studies Limits: Humans Language: En Journal: Proc Natl Acad Sci U S A Year: 2022 Document type: Article Country of publication: Estados Unidos
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: COVID-19 Type of study: Diagnostic_studies / Observational_studies Limits: Humans Language: En Journal: Proc Natl Acad Sci U S A Year: 2022 Document type: Article Country of publication: Estados Unidos