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Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases

التفاصيل البيبلوغرافية
العنوان: Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases
المؤلفون: Deepali N. Shinde, Elizabeth C. Chao, Kelly Radtke, Sitao Wu, Zöe Powis, Mari Rossi, Shuwei Li, Katherine L. Helbig, Samin A. Sajan, Cameron Mroske, Hsiao-Mei Lu, Mark E. Nunes, Kelly D. Farwell Hagman, Sha Tang, Wendy Alcaraz, Dima El-Khechen, Layla Shahmirzadi, Robert Huether, Erica D. Smith
المصدر: Genetics in Medicine. 19:224-235
بيانات النشر: Elsevier BV, 2017.
سنة النشر: 2017
مصطلحات موضوعية: 0301 basic medicine, Genetics, 03 medical and health sciences, Candidate gene, 030104 developmental biology, business.industry, Mutation (genetic algorithm), Medicine, business, Exome, Genetics (clinical), Exome sequencing
الوصف: Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases
تدمد: 1098-3600
DOI: 10.1038/gim.2016.95
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a4a10372d0a09aee19cef830739f4a8f
https://doi.org/10.1038/gim.2016.95
Rights: OPEN
رقم الانضمام: edsair.doi...........a4a10372d0a09aee19cef830739f4a8f
قاعدة البيانات: OpenAIRE
الوصف
تدمد:10983600
DOI:10.1038/gim.2016.95