1 | CDFE, CNTNAP2, PTHS3 |
Inherited genetic variants in autism-related CNTNAP2 show perturbed trafficking and ATF6 activation. | |
Falivelli G, De Jaco A, Favaloro FL, Kim H, Wilson J, Dubi N, Ellisman MH, Abrahams BS, Taylor P, Comoletti D. | |
Hum Mol Genet 21(21):4761-73. doi: 10.1093/hmg/dds320. Epub 2012 Aug 7. 2012 | |
2 | CDFE, CNTNAP2, AUTS1 |
Unraveling autism. | |
Stephan DA. | |
Am J Hum Genet 82(1):7-9. 2008 | |
3 | CDFE, CNTNAP2, ASDT1 |
Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2. | |
Strauss KA, Puffenberger EG, Huentelman MJ, Gottlieb S, Dobrin SE, Parod JM, Stephan DA, Morton DH. | |
N Engl J Med 354(13):1370-7. 2006 | |