Comparison of Predictive In Silico Tools on Missense Variants in GJB2, GJB6, and GJB3 Genes Associated with Autosomal Recessive Deafness 1A (DFNB1A)

In silico predictive software allows assessing the effect of amino acid substitutions on the structure or function of a protein without conducting functional studies. The accuracy of in silico pathogenicity prediction tools has not been previously assessed for variants associated with autosomal rece...

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Gepubliceerd in:ScientificWorldJournal
Hoofdauteurs: Pshennikova, Vera G., Barashkov, Nikolay A., Romanov, Georgii P., Teryutin, Fedor M., Solov'ev, Aisen V., Gotovtsev, Nyurgun N., Nikanorova, Alena A., Nakhodkin, Sergey S., Sazonov, Nikolay N., Morozov, Igor V., Bondar, Alexander A., Dzhemileva, Lilya U., Khusnutdinova, Elza K., Posukh, Olga L., Fedorova, Sardana A.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Hindawi 2019
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Research Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6446107/
https://ncbi.nlm.nih.gov/pubmed/31015822
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2019/5198931
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