| 1 | EXOSC3, EXOSC8, PCH1B, PCH1C, RBM7 |
| Altered RNA metabolism due to a homozygous RBM7 mutation in a patient with spinal motor neuropathy. | |
| Giunta M, Edvardson S, Xu Y, Schuelke M, Gomez-Duran A, Boczonadi V, Elpeleg O, Müller JS, Horvath R. | |
| Hum Mol Genet 25(14):2985-2996. Epub 2016 May 18. 2016 | |
| 2 | EXOSC8, RBM7 |
| EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia. | |
| Boczonadi V, Müller JS, Pyle A, Munkley J, Dor T, Quartararo J, Ferrero I, Karcagi V, Giunta M, Polvikoski T, Birchall D, Princzinger A, Cinnamon Y, Lützkendorf S, Piko H, Reza M, Florez L, Santibanez-Koref M, Griffin H, Schuelke M, Elpeleg O, Kalaydjieva L, Lochmüller H, Elliott DJ, Chinnery PF, Edvardson S, Horvath R. | |
| Nat Commun 5:4287. doi: 10.1038/ncomms5287. 2014 | |
| 3 | RBM7 |
| Spermatogenetic expression of RNA-binding motif protein 7, a protein that interacts with splicing factors. | |
| Guo TB, Boros LG, Chan KC, Hikim AP, Hudson AP, Swerdloff RS, Mitchell AP, Salameh WA. | |
| J Androl 24(2):204-14.PMID: 12634307 2003 | |