دورية أكاديمية
Reanalysis of clinical exome identifies the second variant in two individuals with recessive disorders
| العنوان: | Reanalysis of clinical exome identifies the second variant in two individuals with recessive disorders |
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| المؤلفون: | Li, Qifei, Agrawal, Rohan, Schmitz-Abe, Klaus, Genetti, Casie A., Fernandes, Melissa A., Fryou, Noah L., Madden, Jill A., Brownstein, Catherine A., Smith, Edward C., Rajabi, Farrah, Beggs, Alan H., Agrawal, Pankaj B. |
| المساهمون: | U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute, Foundation for the National Institutes of Health |
| المصدر: | European Journal of Human Genetics ; volume 31, issue 6, page 712-715 ; ISSN 1018-4813 1476-5438 |
| بيانات النشر: | Springer Science and Business Media LLC |
| سنة النشر: | 2023 |
| مصطلحات موضوعية: | Genetics (clinical), Genetics |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| DOI: | 10.1038/s41431-023-01291-2 |
| الإتاحة: | https://doi.org/10.1038/s41431-023-01291-2Test https://www.nature.com/articles/s41431-023-01291-2.pdfTest https://www.nature.com/articles/s41431-023-01291-2Test |
| حقوق: | https://www.springernature.com/gp/researchers/text-and-data-miningTest ; https://www.springernature.com/gp/researchers/text-and-data-miningTest |
| رقم الانضمام: | edsbas.89921735 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1038/s41431-023-01291-2 |
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