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Pitfalls in the phylogenomic evaluation of human disease-causing mutations
A detailed sequence comparison of the MSX homeobox family sheds light on its evolution and identifies new conserved motifs. But in the absence of corroborative genetic data, phylogenomics alone can provide only limited insights into the pathogenicity of heterozygous missense substitutions in human g...
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| Formato: | Texto |
| Lenguaje: | English |
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BioMed Central
2009
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2689431/ https://www.ncbi.nlm.nih.gov/pubmed/19344491 http://dx.doi.org/10.1186/jbiol127 |
| _version_ | 1782167789200474112 |
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| author | Wilkie, Andrew OM |
| author_facet | Wilkie, Andrew OM |
| author_sort | Wilkie, Andrew OM |
| collection | PubMed |
| description | A detailed sequence comparison of the MSX homeobox family sheds light on its evolution and identifies new conserved motifs. But in the absence of corroborative genetic data, phylogenomics alone can provide only limited insights into the pathogenicity of heterozygous missense substitutions in human genes. |
| format | Text |
| id | pubmed-2689431 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2009 |
| publisher | BioMed Central |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-26894312009-09-24 Pitfalls in the phylogenomic evaluation of human disease-causing mutations Wilkie, Andrew OM J Biol Minireview A detailed sequence comparison of the MSX homeobox family sheds light on its evolution and identifies new conserved motifs. But in the absence of corroborative genetic data, phylogenomics alone can provide only limited insights into the pathogenicity of heterozygous missense substitutions in human genes. BioMed Central 2009 2009-03-24 /pmc/articles/PMC2689431/ /pubmed/19344491 http://dx.doi.org/10.1186/jbiol127 Text en Copyright © 2009 BioMed Central Ltd |
| spellingShingle | Minireview Wilkie, Andrew OM Pitfalls in the phylogenomic evaluation of human disease-causing mutations |
| title | Pitfalls in the phylogenomic evaluation of human disease-causing mutations |
| title_full | Pitfalls in the phylogenomic evaluation of human disease-causing mutations |
| title_fullStr | Pitfalls in the phylogenomic evaluation of human disease-causing mutations |
| title_full_unstemmed | Pitfalls in the phylogenomic evaluation of human disease-causing mutations |
| title_short | Pitfalls in the phylogenomic evaluation of human disease-causing mutations |
| title_sort | pitfalls in the phylogenomic evaluation of human disease-causing mutations |
| topic | Minireview |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2689431/ https://www.ncbi.nlm.nih.gov/pubmed/19344491 http://dx.doi.org/10.1186/jbiol127 |
| work_keys_str_mv | AT wilkieandrewom pitfallsinthephylogenomicevaluationofhumandiseasecausingmutations |