Compound heterozygous KCNQ1 mutations (A300T/P535T) in a child with sudden unexplained death: Insights into possible molecular mechanisms based on protein modeling
Keywords: aa; amino acid; BWA; Burrows-Wheeler aligner; CaM; calmodulin; CPR; cardiopulmonary resuscitation; DNA; deoxyribonucleic acid; ECG; electrocardiogram; GOF; gain of function; KCNE1; potassium voltage-gated channel subfamily E member 1; Kv7.1; voltage-gated