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Comprehensive analysis of RET common and rare variants in a series of Spanish Hirschsprung patients confirms a synergistic effect of both kinds of events

Rocio Núñez-Torres, Raquel M Fernández, Manuel Jesus Acosta, Maria del Valle Enguix-Riego, Martina Marbá, Juan Carlos de Agustín, Luis Castaño, Guillermo Antiñolo and Salud Borrego*

BMC Medical Genetics 2011, 12:138  doi:10.1186/1471-2350-12-138