An analysis of features to predict the functional consequences of missense variants in the genes SCN5A and KCNQ1. We looked at sequence conservation, in silico variant classifiers, secondary structural elements, and many other structure-derived features. All code and data used in this publication (https://www.ncbi.nlm.nih.gov/pubmed/30828412) are included here.
kroncke-lab/Q1_5A_Structure_Function
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Resources developed to predict variant-induced changes in function in KCNQ1 and SCN5A
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