Clinical Exome Studies Have Inconsistent Coverage.

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作者： Garrett,Gotway ^[1] ; Eric,Crossley ^[2] ; Julia,Kozlitina ^[3] ; Chao,Xing ^[4] ; Judy,Fan ^[1] ; Callie,Hornbuckle ^[1] ; Jenny,Thies ^[5] ; Donnice,Michel ^[5] ; Christine,Quinn ^[5] ; Angela E,Scheuerle ^[5] ; Luis A,Umana ^[5] ; Crescenda L,Uhles ^[1] ; Jason Y,Park ^[2]

作者单位： McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, TX. ^[1] Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX. ^[2] Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, TX. ^[3] Department of Pathology, Children's Health System of Texas, Dallas, TX. ^[4] Department of Genetics, Children's Health System of Texas, Dallas, TX. ^[5] Department of Pathology, University of Texas Southwestern Medical Center, Dallas, TX. ^[6]

主题词 BRCA1蛋白质(BRCA1 Protein);癫痫(Epilepsy);外显子(Exons);指导方针(主题)(Guidelines as Topic);人类(Humans);实验室, 医院(Laboratories, Hospital)

DOI 10.1093/clinchem.2019.306795

PMID 32609854

发布时间 2022-12-07

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准确一般字义偏差语意偏离译文作用小提交