KEGG   VARIANT: 4838v1
Entry
4838v1                      Variant                                
Name
NODAL mutation
Type
Loss of function
Gene
NODAL  nodal homolog isoform 1 preproprotein [KO:K04666]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 601265
Network
nt06507  TGFB signaling
Disease
H00632  Heterotaxy
Reference
PMID:11376438
  Authors
Kathiriya IS, Srivastava D
  Title
Left-right asymmetry and cardiac looping: implications for cardiac development and congenital heart disease.
  Journal
Am J Med Genet 97:271-9 (2000)
DOI:10.1002/1096-8628(200024)97:4<271::aid-ajmg1277>3.0.co;2-o
Reference
PMID:19064609
  Authors
Mohapatra B, Casey B, Li H, Ho-Dawson T, Smith L, Fernbach SD, Molinari L, Niesh SR, Jefferies JL, Craigen WJ, Towbin JA, Belmont JW, Ware SM
  Title
Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations.
  Journal
Hum Mol Genet 18:861-71 (2009)
DOI:10.1093/hmg/ddn411
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