KEGG   VARIANT: 2752v1
Entry
2752v1                      Variant                                
Name
GLUL mutation
Type
Loss of function
Gene
GLUL  glutamate-ammonia ligase [KO:K01915]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 138290
Network
nt06544  Neuroactive ligand signaling
Disease
H00923  Congenital systemic glutamine deficiency
Reference
  Authors
Haberle J, Gorg B, Rutsch F, Schmidt E, Toutain A, Benoist JF, Gelot A, Suc AL, Hohne W, Schliess F, Haussinger D, Koch HG
  Title
Congenital glutamine deficiency with glutamine synthetase mutations.
  Journal
N Engl J Med 353:1926-33 (2005)
DOI:10.1056/NEJMoa050456
LinkDB

DBGET integrated database retrieval system