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Eloy, Philippine et al. PLOS Genet.

Eloy, Philippine et al. PLOS Genet. 2016 Feb

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).



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"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

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