TY  - GEN
AU  - Mellid, Sara
AU  - Coloma, Javier
AU  - Calsina, Bruna
AU  - Monteagudo, María
AU  - Roldán-Romero, Juan M
AU  - Santos, María
AU  - Leandro-García, Luis J
AU  - Lanillos, Javier
AU  - Martínez-Montes, Ángel M
AU  - Rodríguez-Antona, Cristina
AU  - Montero-Conde, Cristina
AU  - Martínez-López, Joaquín
AU  - Ayala, Rosa
AU  - Matias-Guiu, Xavier
AU  - Robledo Batanero, Mercedes
AU  - Cascón, Alberto
PY  - 2020
UR  - https://hdl.handle.net/20.500.12105/26011
AB  - Over the past few years, next generation technologies have been applied to unravel the genetics of rare inherited diseases, facilitating the discovery of new susceptibility genes. We recently found germline  gain-of-function variants in two patients...
LA  - eng
PB  - MPDI
KW  - DNMT3A
KW  - germline variant
KW  - papillary thyroid carcinoma
KW  - paraganglioma
TI  - Novel  Germline Variant in a Patient with Multiple Paragangliomas and Papillary Thyroid Carcinoma.
TY  - research article
ER  -