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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...

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Detalhes bibliográficos
Publicado no:Int J Mol Sci
Main Authors: Frisso, Giulia, Detta, Nicola, Coppola, Pamela, Mazzaccara, Cristina, Pricolo, Maria Rosaria, D’Onofrio, Antonio, Limongelli, Giuseppe, Calabrò, Raffaele, Salvatore, Francesco
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2016
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5133883/
https://ncbi.nlm.nih.gov/pubmed/27834932
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms17111883
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