Entry |
|
Name |
|
Gene |
|
Organism |
hsa_var Human gene variants (Homo sapiens)
|
Variation |
|
Network |
nt06539 Cytoskeleton in muscle cells |
Disease |
|
Reference |
|
Authors |
Putnam EA, Zhang H, Ramirez F, Milewicz DM |
Title |
Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly. |
Journal |
|
LinkDB |
|