KEGG   VARIANT: 2694v1
Entry
2694v1                      Variant                                
Name
CBLIF deficiency
Type
Loss of function
Gene
CBLIF  cobalamin binding intrinsic factor [KO:K14615]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 609342
Network
nt06538  Cobalamin transport and metabolism
Disease
H01277  Vitamin B12 deficiency anaemia
Reference
PMID:14695536
  Authors
Gordon MM, Brada N, Remacha A, Badell I, del Rio E, Baiget M, Santer R, Quadros EV, Rothenberg SP, Alpers DH
  Title
A genetic polymorphism in the coding region of the gastric intrinsic factor gene (GIF) is associated with congenital intrinsic factor deficiency.
  Journal
Hum Mutat 23:85-91 (2004)
DOI:10.1002/humu.10297
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