| 1 | SCAR26, XRCC1 |
| XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia. | |
| Hoch NC, Hanzlikova H, Rulten SL, Tétreault M, Komulainen E, Ju L, Hornyak P, Zeng Z, Gittens W, Rey SA, Staras K, Mancini GM, McKinnon PJ, Wang ZQ, Wagner JD; Care4Rare Canada Consortium, Yoon G, Caldecott KW. | |
| Nature 541(7635):87-91. doi: 10.1038/nature20790. Epub 2016 Dec 21. 2017 | |