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De novo mutational profile in RB1 clarified using a mutation rate modeling algorithm
BACKGROUND: Studies of de novo mutations offer great promise to improve our understanding of human disease. After a causal gene has been identified, it is natural to hypothesize that disease relevant mutations accumulate within a sub-sequence of the gene – for example, an exon, a protein domain, or...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2017
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5307739/ https://www.ncbi.nlm.nih.gov/pubmed/28193182 http://dx.doi.org/10.1186/s12864-017-3522-z |