Whole genome sequencing reveals a frameshift mutation and a large deletion in YY1AP1 in a girl with a panvascular artery disease

por Raggio, Víctor, Dell’Oca, Nicolas, Simoes, Camila, Tapié, Alejandra, Medici, Conrado, Costa, Gonzalo, Rodriguez, Soledad, Greif, Gonzalo, Garrone, Estefania, Rovella, María Laura, Gonzalez, Virgina, Halty, Margarita, González, Gabriel, Shin, Jong-Yeon, Shin, Sang-Yoon, Kim, Changhoon, Seo, Jeong-Sun, Graña, Martin, Naya, Hugo, Spangenberg, Lucia
Publicado 2021