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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...

詳細記述

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書誌詳細
出版年:Int J Mol Sci
主要な著者: Frisso, Giulia, Detta, Nicola, Coppola, Pamela, Mazzaccara, Cristina, Pricolo, Maria Rosaria, D’Onofrio, Antonio, Limongelli, Giuseppe, Calabrò, Raffaele, Salvatore, Francesco
フォーマット: Artigo
言語:Inglês
出版事項: MDPI 2016
主題:
オンライン・アクセス: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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