KEGG   VARIANT: 4338v1
Entry
4338v1                      Variant                                
Name
MOCS2 deficiency
Type
Loss of function
Gene
MOCS2  molybdenum cofactor synthesis 2 [KO:K03635]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 603708
Network
nt06025  Molybdenum cofactor biosynthesis
Disease
H02311  Molybdenum cofactor deficiency
Reference
PMID:10053004
  Authors
Reiss J, Dorche C, Stallmeyer B, Mendel RR, Cohen N, Zabot MT
  Title
Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B.
  Journal
Am J Hum Genet 64:706-11 (1999)
DOI:10.1086/302296
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