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Lifting the lid on unborn lethal Mendelian phenotypes through exome sequencing
PURPOSE: Mendelian phenotypes in humans vary from benign variants to lethal disorders. Embryonic lethal phenotypes that are similar to what has been known for a long time in mice have remained largely unknown because of the difficulty in arriving at a molecular diagnosis. The purpose of this study i...
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| Autori principali: | , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Nature Publishing Group
2013
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3908556/ https://ncbi.nlm.nih.gov/pubmed/23037934 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2012.130 |
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