KEGG   VARIANT: 6566v1
Entry
6566v1                      Variant                                
Name
SLC16A1 mutation
Type
Loss of function
Gene
SLC16A1  solute carrier family 16 member 1 [KO:K08179]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 600682
Network
nt06535  Efferocytosis
Disease
H01248  Monocarboxylate transporter 1 deficiency
H01267  Familial hyperinsulinemic hypoglycemia
Reference
PMID:17701893
  Authors
Otonkoski T, Jiao H, Kaminen-Ahola N, Tapia-Paez I, Ullah MS, Parton LE, Schuit F, Quintens R, Sipila I, Mayatepek E, Meissner T, Halestrap AP, Rutter GA, Kere J
  Title
Physical exercise-induced hypoglycemia caused by failed silencing of monocarboxylate transporter 1 in pancreatic beta cells.
  Journal
Am J Hum Genet 81:467-74 (2007)
DOI:10.1086/520960

  All links  
Network (1)   
   KEGG NETWORK (1)   
Disease (2)   
   KEGG DISEASE (2)   
Gene (1)   
   OMIMVAR (1)   
Literature (1)   
   PubMed (1)   
All databases (5)   

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