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Functional Studies and In Silico Analyses to Evaluate Non-Coding Variants in Inherited Cardiomyopathies
Point mutations are the most common cause of inherited diseases. Bioinformatics tools can help to predict the pathogenicity of mutations found during genetic screening, but they may work less well in determining the effect of point mutations in non-coding regions. In silico analysis of intronic vari...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5133883/ https://www.ncbi.nlm.nih.gov/pubmed/27834932 http://dx.doi.org/10.3390/ijms17111883 |