| 1 | CWF19L1, SCAR17
|
| Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy.
|
| Evers C, Kaufmann L, Seitz A, Paramasivam N, Granzow M, Karch S, Fischer C, Hinderhofer K, Gdynia G, Elsässer M, Pinkert S, Schlesner M, Bartram CR, Moog U.
|
| Am J Med Genet A 170(6):1502-9. doi: 10.1002/ajmg.a.37632. Epub 2016 Mar 26.
2016
|
| 2 | CWF19L1, SCAR17
|
| Pathogenic CWF19L1 variants as a novel cause of autosomal recessive cerebellar ataxia and atrophy.
|
| Nguyen M, Boesten I, Hellebrekers DM, Vanoevelen J, Kamps R, de Koning B, de Coo IF, Gerards M, Smeets HJ.
|
| Eur J Hum Genet 24(4):619-22. doi: 10.1038/ejhg.2015.158. Epub 2015 Jul 22.
2016
|
| 3 | CWF19L1, SCAR17
|
| Homozygous splice mutation in CWF19L1 in a Turkish family with recessive ataxia syndrome.
|
| Burns R, Majczenko K, Xu J, Peng W, Yapici Z, Dowling JJ, Li JZ, Burmeister M.
|
| Neurology 83(23):2175-82. doi: 10.1212/WNL.0000000000001053. Epub 2014 Oct 31.
2014
|