KEGG   VARIANT: 58494v1
Entry
58494v1                      Variant                               
Name
JAM2 mutation
Type
Loss of function
Gene
JAM2  junctional adhesion molecule 2 [KO:K06735]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 606870
Network
nt06546  IgSF CAM signaling
Disease
H01574  Familial idiopathic basal ganglia calcification
Reference
  Authors
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
  Title
Biallelic loss-of-function mutations in JAM2 cause primary familial brain calcification.
  Journal
Brain 143:491-502 (2020)
DOI:10.1093/brain/awz392
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