Authors: Töpf, Ana, Pyle, Angela, Griffin, Helen, Matalonga, Leslie, Schon, Katherine, Solve-RD SNV-indel working group, Solve-RD DITF-euroNMD, Sickmann, Albert, Schara-Schmidt, Ulrike, Hentschel, Andreas, Chinnery, Patrick F., Kölbel, Heike, Roos, Andreas
Subject Terms: Genetics research, Next-generation sequencing
File Description: application/pdf
Relation: Eur J Hum Genet. 2021;29(9):1348-53; info:eu-repo/grantAgreement/EC/H2020/779257; Töpf A, Pyle A, Griffin H, Matalonga L, Schon K; Solve-RD SNV-indel working group; Solve-RD DITF-euroNMD, Sickmann A, Schara-Schmidt U, Hentschel A, Chinnery PF, Kölbel H, Roos A, Horvath R. Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1). Eur J Hum Genet. 2021;29(9):1348-53. DOI:10.1038/s41431-021-00851-8; http://hdl.handle.net/10230/49021; http://dx.doi.org/10.1038/s41431-021-00851-8
