| 1 | BGCI8, JAM2 |
| Biallelic loss-of-function mutations in JAM2 cause primary familial brain calcification. | |
| Cen Z, Chen Y, Chen S, Wang H, Yang D, Zhang H, Wu H, Wang L, Tang S, Ye J, Shen J, Wang H, Fu F, Chen X, Xie F, Liu P, Xu X, Cao J, Cai P, Pan Q, Li J, Yang W, Shan PF, Li Y, Liu JY, Zhang B, Luo W | |
| Brain 2020 Feb 1;143(2):491-502. doi: 10.1093/brain/awz392. 2020 | |
| 2 | BGCI8, JAM2 |
| Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification | |
| Schottlaender LV, Abeti R, Jaunmuktane Z, et al. | |
| Am J Hum Genet. 2020;106(3):412-421 2020 | |