Publication
High-throughput splicing assays identify missense and silent splice-disruptivePOU1F1variants underlying pituitary hormone deficiency
Peter Gergics, Cathy Smith, Hironori Bando, Alexander A. L. Jorge, Denise Rockstroh-Lippold, Sebastian Vishnopolska, Frederic Castinetti, Mariam Maksutova, Luciani Renata Silveira Carvalho, Julia Hoppmann, Julian Martinez Mayer, Frédérique Albarel, Debora Braslavsky, Ana Keselman, Ignacio Bergadá, Marcelo Martí, Alexandru Saveanu, Anne Barlier, Rami Abou Jamra, Michael H. Guo, Andrew Dauber, Marilena Nakaguma, Berenice B Mendonça, A Bilge Ozel, Qing Fang, Qianyi Ma, Jun Z. Li, Thierry Brue, María Ines Pérez Millán, Jacob O. Kitzman, Ivo JP Arnhold, Roland Pfaeffle, Sally A. Camper
February 2021, Cold Spring Harbor Laboratory Press
DOI: 10.1101/2021.02.04.21249469