KEGG   VARIANT: 55191v1
Entry
55191v1                      Variant                               
Name
NADSYN1 deficiency
Type
Loss of function
Gene
NADSYN1  NAD synthetase 1 [KO:K01950]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 608285
Network
nt06036  Lysine degradation
Disease
H02087  Vertebral, cardiac, renal, and limb defects syndrome
Reference
PMID:31883644
  Authors
Szot JO, Campagnolo C, Cao Y, Iyer KR, Cuny H, Drysdale T, Flores-Daboub JA, Bi W, Westerfield L, Liu P, Leung TN, Choy KW, Chapman G, Xiao R, Siu VM, Dunwoodie SL
  Title
Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders.
  Journal
Am J Hum Genet 106:129-136 (2020)
DOI:10.1016/j.ajhg.2019.12.006
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