Rowida Almomani and colleagues present a whole-exome sequencing analysis of consanguineous family with idiopathic pediatric cardiomyopathy. They identified a newly causal homozygous truncating mutations in ALPK3 gene.
Almomani, Rowida et al. Journal of the American College of Cardiology.
"We are very pleased with Alamut since it conveniently streamlines post-sequencing analyses of detected variants. We value the programme user friendliness and its all-in one approach to variant analysis."
PROF. MILAN MACEK Jr. M.D. Ph.D.
Charles University, Prague