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Rodríguez-García, María Elena, Francisco Javier Cotrina-Vinagre, Marcello Bellusci, Ana Martínez de Aragón, Laura Hernández-Sánchez, Patricia Carnicero-Rodríguez, Elena Martín-Hernández, and Francisco Martínez-Azorín. "A Novel De Novo MTOR Gain-of-function Variant in a Patient With Smith-Kingsmore Syndrome and Antiphospholipid Syndrome." Eur J Hum Genet 2019.

Rodríguez-García, María Elena, et al. "A Novel De Novo MTOR Gain-of-function Variant in a Patient With Smith-Kingsmore Syndrome and Antiphospholipid Syndrome." Eur J Hum Genet 2019.