학술논문
Rare variant enrichment analysis supports GREB1L as a contributory driver gene in the etiology of Mayer-Rokitansky-Küster-Hauser syndrome
Document Type
Article
Author
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.
Source
In Human Genetics and Genomics Advances 13 July 2023 4(3)
Subject
Language
ISSN
2666-2477