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Assessing the functional consequence of loss of function variants using electronic medical record and large-scale genomics consortium efforts
Estimates from large scale genome sequencing studies indicate that each human carries up to 20 genetic variants that are predicted to results in loss of function (LOF) of protein-coding genes. While some are known disease-causing variants or common, tolerated, LOFs in non-essential genes, the majori...
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| Hauptverfasser: | , , , , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Frontiers Media S.A.
2014
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4010747/ https://ncbi.nlm.nih.gov/pubmed/24808909 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2014.00105 |
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