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.
"I have previously used Alamut Visual in the UK and it is an invaluable resource for variant curation which I was keen to bring into use in my new role in New Zealand. provides a convenient and user-friendly interface which pulls together literature searches, population databases and in silico prediction tools. This enables streamlining of the curation process and saves a lot of time."
Wellington Regional Genetics Laboratory, Wellington, New Zealand