KEGG   VARIANT: 4126v1
Entry
4126v1                      Variant                                
Name
MANBA mutation
Type
Loss of function
Gene
MANBA  beta-mannosidase precursor [KO:K01192]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 609489
Network
nt06551  Lysosome
Disease
H00140  beta-Mannosidosis
Reference
PMID:9384606
  Authors
Alkhayat AH, Kraemer SA, Leipprandt JR, Macek M, Kleijer WJ, Friderici KH
  Title
Human beta-mannosidase cDNA characterization and first identification of a mutation associated with human beta-mannosidosis.
  Journal
Hum Mol Genet 7:75-83 (1998)
DOI:10.1093/hmg/7.1.75
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