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A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations.

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第一作者: Anton,Safonov
第一单位: Department of Medicine, University of Pennsylvania, Philadelphia, PA, USA.;Breast Medicine Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
作者单位: Department of Medicine, University of Pennsylvania, Philadelphia, PA, USA.;Breast Medicine Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA. [1] Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA. [2] Department of Clinical Diagnostics, Ambry Genetics, Aliso Viejo, CA, USA. [3] Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. [4] Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.;Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. [5] College of Arts and Sciences, Oberlin College, Oberlin, OH, USA. [6] College of Arts and Sciences, University of Pennsylvania, Philadelphia, PA, USA. [7] Natera Inc., Austin, TX, USA. [8] University of Alabama in Birmingham, Heersink School of Medicine, Department of Genetics, Birmingham, AL, USA.;HudsonAlpha Institute of Biotechnology, Huntsville, AL, USA. [9] Division of Precision Prevention, Department of Medicine, University of Kansas School of Medicine, Kansas City, KS, USA. [10] Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.;Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. [11] Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. [12] Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. knathans@upenn.edu.;Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. knathans@upenn.edu.;Basser Center for BRCA and Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA. knathans@upenn.edu. [13] Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. theodore.drivas@pennmedicine.upenn.edu.;Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. theodore.drivas@pennmedicine.upenn.edu. [14]
DOI 10.1038/s41467-025-57077-1
PMID 40169570
发布时间 2025-07-21
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