KEGG   VARIANT: 10243v1
Entry
10243v1                      Variant                               
Name
GPHN deficiency
Type
Loss of function
Gene
GPHN  gephyrin [KO:K15376]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 603930
Network
nt06025  Molybdenum cofactor biosynthesis
nt06544  Neuroactive ligand signaling
Disease
H02311  Molybdenum cofactor deficiency
Reference
PMID:22040219
  Authors
Reiss J, Lenz U, Aquaviva-Bourdain C, Joriot-Chekaf S, Mention-Mulliez K, Holder-Espinasse M
  Title
A GPHN point mutation leading to molybdenum cofactor deficiency.
  Journal
Clin Genet 80:598-9 (2011)
DOI:10.1111/j.1399-0004.2011.01709.x
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