KEGG   VARIANT: 6948v1
Entry
6948v1                      Variant                                
Name
TCN2 deficiency
Type
Loss of function
Gene
TCN2  transcobalamin 2 [KO:K14619]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 613441
Network
nt06538  Cobalamin transport and metabolism
Disease
H01190  Transcobalamin II deficiency
Reference
PMID:2309761
  Authors
Barshop BA, Wolff J, Nyhan WL, Yu A, Prodanos C, Jones G, Sweetman L, Leslie J, Holm J, Green R, et al.
  Title
Transcobalamin II deficiency presenting with methylmalonic aciduria and homocystinuria and abnormal absorption of cobalamin.
  Journal
Am J Med Genet 35:222-8 (1990)
DOI:10.1002/ajmg.1320350216
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