Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Nature Communications
Fragoza, Robert R; Das, Jishnu J; Wierbowski, Shayne D SD; Liang, Jin J; Tran, Tina N TN; Liang, Siqi S; Beltran, Juan F JF; Rivera-Erick, Christen A CA; Ye, Kaixiong K; Wang, Ting-Yi TY; Yao, Li L; Mort, Matthew M; Stenson, Peter D PD; Cooper, David N DN; Wei, Xiaomu X; Keinan, Alon A; Schimenti, John C JC; Clark, Andrew G AG; Yu, Haiyuan H
Publication Date: 2019-09-12
Variant appearance in text: TCF12: 1520T>G; L507R; rs36060670
Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants.
European Journal Of Human Genetics : Ejhg
Paumard-Hernández, Beatriz B; Berges-Soria, Julia J; Barroso, Eva E; Rivera-Pedroza, Carlos I CI; Pérez-Carrizosa, Virginia V; Benito-Sanz, Sara S; López-Messa, Eva E; Santos, Fernando F; García-Recuero, Ignacio I II; Romance, Ana A; Ballesta-Martínez, Juliana María JM; López-González, Vanesa V; Campos-Barros, Ángel Á; Cruz, Jaime J; Guillén-Navarro, Encarna E; Sánchez Del Pozo, Jaime J; Lapunzina, Pablo P; García-Miñaur, Sixto S; Heath, Karen E KE
Publication Date: 2015-07
Variant appearance in text: TCF12: 1520T>G; Leu507Arg; rs36060670