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Improving the in silico assessment of pathogenicity for compensated variants
Understanding the functional sequelae of amino-acid replacements is of fundamental importance in medical genetics. Perhaps, the most intuitive way to assess the potential pathogenicity of a given human missense variant is by measuring the degree of evolutionary conservation of the substituted amino-...
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| Veröffentlicht in: | Eur J Hum Genet |
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| Hauptverfasser: | , , , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Nature Publishing Group
2017
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5159764/ https://ncbi.nlm.nih.gov/pubmed/27703146 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2016.129 |
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