Whole genome sequencing reveals a frameshift mutation and a large deletion in YY1AP1 in a girl with a panvascular artery disease
全基因组测序显示，一名患有泛血管动脉疾病的女孩的YY1AP1基因存在移码突变和大片段缺失。
期刊:Human Genomics
影响因子:4.3
doi:10.1186/s40246-021-00328-1
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
