TY  - GEN
AU  - Comino-Méndez, Iñaki
AU  - Leandro-García, Luis J
AU  - Montoya, Guillermo
AU  - Inglada-Pérez, Lucía
AU  - de Cubas, Aguirre A
AU  - Currás-Freixes, María
AU  - Tysoe, Carolyn
AU  - Izatt, Louise
AU  - Letón, Rocío
AU  - Gómez-Graña, Álvaro
AU  - Mancikova, Veronika
AU  - Apellániz-Ruiz, María
AU  - Mannelli, Massimo
AU  - Schiavi, Francesca
AU  - Favier, Judith
AU  - Gimenez-Roqueplo, Anne-Paule
AU  - Timmers, Henri J L M
AU  - Roncador, Giovanna
AU  - Garcia, Juan F
AU  - Rodríguez-Antona, Cristina
AU  - Robledo, Mercedes
AU  - Cascon Soriano, Alberto
PY  - 2015
UR  - https://hdl.handle.net/20.500.12105/26181
AB  - The presence of germline mutations affecting the MYC-associated protein X (MAX) gene has recently been identified as one of the now 11 major genetic predisposition factors for the development of hereditary pheochromocytoma and/or paraganglioma. Little...
AB  - A functional assay assesses the effects of MAX VUS over MYC transcriptional activity. A consensus computational prediction and the functional assay show high concordance. Variant carriers' clinical and molecular data support the functional assessment.
LA  - eng
PB  - Springuer
KW  - MAX
KW  - PC12 cells
KW  - Paraganglioma
KW  - Pheochromocytoma
KW  - Variants of unknown significance
TI  - Functional and in silico assessment of MAX variants of unknown significance.
TY  - research article
ER  -