Mutations in RELT cause autosomal recessive amelogenesis imperfecta.
Clinical Genetics
Kim, Jung-Wook JW; Zhang, Hong H; Seymen, Figen F; Koruyucu, Mine M; Hu, Yuanyuan Y; Kang, Jenny J; Kim, Youn J YJ; Ikeda, Atsushi A; Kasimoglu, Yelda Y; Bayram, Merve M; Zhang, Chuhua C; Kawasaki, Kazuhiko K; Bartlett, John D JD; Saunders, Thomas L TL; Simmer, James P JP; Hu, Jan C-C JC
Publication Date: 2019-03
Variant appearance in text: TBC1D9B: E819K; rs11545788
Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.
Cell Reports
Cheng, Hui H; Yang, Xinping X; Si, Han H; Saleh, Anthony D AD; Xiao, Wenming W; Coupar, Jamie J; Gollin, Susanne M SM; Ferris, Robert L RL; Issaeva, Natalia N; Yarbrough, Wendell G WG; Prince, Mark E ME; Carey, Thomas E TE; Van Waes, Carter C; Chen, Zhong Z
Publication Date: 2018-10-30
Variant appearance in text: TBC1D9B: E819K; rs11545788
The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.
Genome Medicine
Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM
Publication Date: 2016-07-26
Variant appearance in text: TBC1D9B: 2455G>A; E819K; rs11545788