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: ABCA9: P1453T; rs148927389
Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.
Nature Communications
Schrader, A A; Crispatzu, G G; Oberbeck, S S; Mayer, P P; Pützer, S S; von Jan, J J; Vasyutina, E E; Warner, K K; Weit, N N; Pflug, N N; Braun, T T; Andersson, E I EI; Yadav, B B; Riabinska, A A; Maurer, B B; Ventura Ferreira, M S MS; Beier, F F; Altmüller, J J; Lanasa, M M; Herling, C D CD; Haferlach, T T; Stilgenbauer, S S; Hopfinger, G G; Peifer, M M; Brümmendorf, T H TH; Nürnberg, P P; Elenitoba-Johnson, K S J KSJ; Zha, S S; Hallek, M M; Moriggl, R R; Reinhardt, H C HC; Stern, M-H MH; Mustjoki, S S; Newrzela, S S; Frommolt, P P; Herling, M M
Publication Date: 2018-02-15
Variant appearance in text: ABCA9: P1453T; rs148927389
NCI-60 whole exome sequencing and pharmacological CellMiner analyses.
Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Publication Date: 2014
Variant appearance in text: ABCA9: P1453T; rs148927389