Philippine Eloy and colleagues reporta study on Retinoblastoma (Rb) families resulting from inactivation of both alleles of the RB1 gene. They found a correlation between the gender of the transmitting carrier and penetrance in families segregating the common c.1981C>T (p.Arg661Trp) mutation and, consequently, investigated the putative involvement of an imprinted, modifier gene in low penetrance Rb (a MED4-driven mechanism by MED4 methylation).
Eloy, Philippine et al. PLOS Genet.
"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