Jos Jansen and colleagues present an exome sequencing analysis in a family with siblings affected by abnormal Golgi glycosylation. They identified several causal variations in CCDC115 gene: a homozygous missense mutation, c.92T>C (p.Leu31Ser) and this one was also compound heterozygous in combination with a heterozygous deletion of CCDC115 (in one family) and a homozygous missense mutation, c.31G>T (p.Asp11Tyr).
Jansen, Jos C. et al. The American Journal of Human Genetics.
"Alamut is the best tool I have used for the annotation of DNA variants. It has a great user interface, combines data from multiple sources and allows for ease of variant interpretation by clinical geneticists."
JORDAN LERNER-ELLIS, Ph.D.
Mt. Sinai Hospital, Toronto