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Accurate prediction of functional, structural, and stability changes in PITX2 mutations using in silico bioinformatics algorithms
Mutations in PITX2 have been implicated in several genetic disorders, particularly Axenfeld-Rieger syndrome. In order to determine the most reliable bioinformatics tools to assess the likely pathogenicity of PITX2 variants, the results of bioinformatics predictions were compared to the impact of var...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Public Library of Science
2018
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5903617/ https://www.ncbi.nlm.nih.gov/pubmed/29664915 http://dx.doi.org/10.1371/journal.pone.0195971 |