Entry |
|
Name |
|
Type |
Loss of function
|
Gene |
|
Organism |
hsa_var Human gene variants (Homo sapiens)
|
Variation |
|
Network |
nt06033 Glycine, serine and arginine metabolism |
Disease |
H00191 | Nonketotic hyperglycinemia |
|
Reference |
|
Authors |
Toone JR, Applegarth DA, Coulter-Mackie MB, James ER |
Title |
Biochemical and molecular investigations of patients with nonketotic hyperglycinemia. |
Journal |
|
LinkDB |
|