Publications:

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

Bmc Medical Genetics

Núñez-Torres, Rocio R; Fernández, Raquel M RM; Acosta, Manuel Jesus MJ; Enguix-Riego, Maria Del Valle Mdel V; Marbá, Martina M; Carlos de Agustín, Juan J; Castaño, Luis L; Antiñolo, Guillermo G; Borrego, Salud S

Publication Date: 2011-10-13

Variant appearance in text: RET: 1325T>C; Leu442Pro

PubMed Link: 21995290

Variant Present in the following documents:

• Main text
• 1471-2350-12-138.pdf

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