Using ClinVar as a Resource to Support Variant Interpretation

Harrison, S. M., Riggs, E. R., Maglott, D. R., Lee, J. M., Azzariti, D. R., Niehaus, A., ... & Rehm, H. L. (2016). Using ClinVar as a Resource to Support Variant Interpretation. Current Protocols in Human Genetics, 8-16.