Comparison of PredictiveIn SilicoTools on Missense Variants inGJB2,GJB6, andGJB3Genes Associated with Autosomal Recessive Deafness 1A (DFNB1A)
Abstract
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 recessive deafness 1A (DFNB1A). Here, we identify in silico tools with the most accurate clinical significance predictions for missense variants of the...
Paper Details
Title
Comparison of PredictiveIn SilicoTools on Missense Variants inGJB2,GJB6, andGJB3Genes Associated with Autosomal Recessive Deafness 1A (DFNB1A)
Published Date
Mar 20, 2019
Journal
Volume
2019
Pages
1 - 9
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