Publications:

Mutational spectrum of semaphorin 3A and semaphorin 3D genes in Spanish Hirschsprung patients.

Plos One

Luzón-Toro, Berta B; Fernández, Raquel M RM; Torroglosa, Ana A; de Agustín, Juan Carlos JC; Méndez-Vidal, Cristina C; Segura, Dolores Isabel DI; Antiñolo, Guillermo G; Borrego, Salud S

Publication Date: 2013

Variant appearance in text: RET: W543R

PubMed Link: 23372769

Variant Present in the following documents:

• Main text
• pone.0054800.pdf

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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.

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: 1627T>A; Trp543Arg

PubMed Link: 21995290

Variant Present in the following documents:

• Main text
• 1471-2350-12-138.pdf

View BVdb publication page