Disease-causing de novo mutations in Cav1.3 calcium channels (CACNA1D) can be classified into four categories based on prototypical functional changes.
Absolute Event Rate: 0% vs 0%
3 splice variants and should therefore be considered a rare non-pathogenic variant until further proof for its pathogenicity is obtained. Our new findings together with previously published data allow classification of pathogenic CACNA1D mutations into four categories based on prototypical functional changes.
Pinggera et al. (Mon,) reported a other. Disease-causing de novo mutations in Cav1.3 calcium channels (CACNA1D) can be classified into four categories based on prototypical functional changes.