Listar por Materia Novel variants
Mostrando resultados 1 a 2 de 2
| Fecha de publicación | Título | Autor(es) |
| 2025 | Genetic characterization of Lynch syndrome germline variants in a LATAM cohort using a customized NGS gene panel | Mathó, Cecilia; Chávez, Santiago; Fort Canobra, Rafael S; Della Valle, Adriana; Neffa, Florencia; Sotelo-Silveira, José Roberto; Artagaveytia, Nora; Duhagon, María Ana |
| 2022 | VHL-P138R and VHL-L163R novel variants: mechanisms of VHL pathogenicity involving HIF-dependent and HIF-independent actions | Mathó, Cecilia; Fernández, María Celia; Bonanata, Jenner; Liu, Xian-De; Martin, Ayelen; Vieites, Ana; Sansó, Gabriela; Barontini, Marta; Jonasch, Eric; Coitiño, E. Laura; Pennisi, Patricia Alejandra |