KEGG   VARIANT: 23498v1
Entry
23498v1                      Variant                               
Name
HAAO deficiency
Type
Loss of function
Gene
HAAO  3-hydroxyanthranilate 3,4-dioxygenase [KO:K00452]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 604521
Network
nt06036  Lysine degradation
Disease
H02087  Vertebral, cardiac, renal, and limb defects syndrome
Reference
PMID:28792876
  Authors
Shi H, Enriquez A, Rapadas M, Martin EMMA, Wang R, Moreau J, Lim CK, Szot JO, Ip E, Hughes JN, Sugimoto K, Humphreys DT, McInerney-Leo AM, Leo PJ, Maghzal GJ, Halliday J, Smith J, Colley A, Mark PR, Collins F, Sillence DO, Winlaw DS, Ho JWK, Guillemin GJ, Brown MA, Kikuchi K, Thomas PQ, Stocker R, Giannoulatou E, Chapman G, Duncan EL, Sparrow DB, Dunwoodie SL
  Title
NAD Deficiency, Congenital Malformations, and Niacin Supplementation.
  Journal
N Engl J Med 377:544-552 (2017)
DOI:10.1056/NEJMoa1616361
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