KEGG   VARIANT: 81693v1
Entry
81693v1                      Variant                               
Name
AMN deficiency
Type
Loss of function
Gene
AMN  amnion associated transmembrane protein [KO:K18259]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 605799
Network
nt06538  Cobalamin transport and metabolism
Disease
H01277  Vitamin B12 deficiency anaemia
Reference
PMID:24156255
  Authors
Storm T, Zeitz C, Cases O, Amsellem S, Verroust PJ, Madsen M, Benoist JF, Passemard S, Lebon S, Jonsson IM, Emma F, Koldso H, Hertz JM, Nielsen R, Christensen EI, Kozyraki R
  Title
Detailed investigations of proximal tubular function in Imerslund-Grasbeck syndrome.
  Journal
BMC Med Genet 14:111 (2013)
DOI:10.1186/1471-2350-14-111
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