دورية أكاديمية
A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project
| العنوان: | A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project |
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| المؤلفون: | Blakes, Alexander J. M.Aff1, Aff2, Wai, Htoo A., Davies, Ian, Moledina, Hassan E., Ruiz, April, Thomas, Tessy, Bunyan, DavidAff5, Aff6, Thomas, N. SimonAff5, Aff6, Burren, Christine P.Aff7, Aff8, Greenhalgh, Lynn, Lees, Melissa, Pichini, AmandaAff11, Aff12, Smithson, Sarah F., Taylor Tavares, Ana LisaAff12, Aff13, O’Donovan, Peter, Douglas, Andrew G. L.Aff1, Aff14, Whiffin, Nicola, Baralle, DianaAff1, Aff4, Lord, JennyAff1, IDs1307302201087x_cor20 |
| المصدر: | Genome Medicine. 14(1) |
| قاعدة البيانات: | Springer Nature Journals |
Find this article in full text from Springer Verlag. 
Full Text Finder | تدمد: | 1756994X |
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| DOI: | 10.1186/s13073-022-01087-x |