Rare variant enrichment analysis supports GREB1L as a contributory driver gene in the etiology of Mayer-Rokitansky-Küster-Hauser syndrome
罕见变异富集分析支持GREB1L是Mayer-Rokitansky-Küster-Hauser综合征病因学中的一个驱动基因。
期刊:HGG Advances
影响因子:3.6
doi:10.1016/j.xhgg.2023.100188
Jolly, Angad; Du, Haowei; Borel, Christelle; Chen, Na; Zhao, Sen; Grochowski, Christopher M; Duan, Ruizhi; Fatih, Jawid M; Dawood, Moez; Salvi, Sejal; Jhangiani, Shalini N; Muzny, Donna M; Koch, André; Rouskas, Konstantinos; Glentis, Stavros; Deligeoroglou, Efthymios; Bacopoulou, Flora; Wise, Carol A; Dietrich, Jennifer E; Van den Veyver, Ignatia B; Dimas, Antigone S; Brucker, Sara; Sutton, V Reid; Gibbs, Richard A; Antonarakis, Stylianos E; Wu, Nan; Coban-Akdemir, Zeynep H; Zhu, Lan; Posey, Jennifer E; Lupski, James R