Joint annotation of coding and non-coding single nucleotide polymorphisms and mutations in the SNPeffect and PupaSuite databases. Submitted by iguillen on Thu, 07/04/2019 - 11:54 Reumers J, Conde L, Medina I, et al. Joint annotation of coding and non-coding single nucleotide polymorphisms and mutations in the SNPeffect and PupaSuite databases. Nucleic Acids Res. 2008;36(Database issue):D825-9. doi:10.1093/nar/gkm979.
Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation. Submitted by iguillen on Mon, 06/10/2019 - 12:00 Matalonga L, Bravo M, Serra-Peinado C, et al. Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation. Hum Mutat. 2017;38(2):148-151. doi:10.1002/humu.23145.
