KEGG   VARIANT: 326625v1
Entry
326625v1                      Variant                              
Name
MMAB deficiency
Type
Loss of function
Gene
MMAB  metabolism of cobalamin associated B [KO:K00798]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 607568
Network
nt06538  Cobalamin transport and metabolism
Disease
H00174  Methylmalonic aciduria
Reference
PMID:34796408
  Authors
Forny P, Plessl T, Frei C, Burer C, Froese DS, Baumgartner MR
  Title
Spectrum and characterization of bi-allelic variants in MMAB causing cblB-type methylmalonic aciduria.
  Journal
Hum Genet 141:1253-1267 (2022)
DOI:10.1007/s00439-021-02398-6
LinkDB

DBGET integrated database retrieval system