KEGG   VARIANT: 4878v1
Entry
4878v1                      Variant                                
Name
NPPA mutation
Type
Loss of function
Gene
NPPA  natriuretic peptide A [KO:K12334]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 108780
Network
nt06325  Hormone/cytokine signaling
Disease
H00731  Atrial fibrillation
H02674  Atrial standstill
Reference
  Authors
Hodgson-Zingman DM, Karst ML, Zingman LV, Heublein DM, Darbar D, Herron KJ, Ballew JD, de Andrade M, Burnett JC Jr, Olson TM
  Title
Atrial natriuretic peptide frameshift mutation in familial atrial fibrillation.
  Journal
N Engl J Med 359:158-65 (2008)
DOI:10.1056/NEJMoa0706300
Reference
  Authors
Disertori M, Quintarelli S, Grasso M, Pilotto A, Narula N, Favalli V, Canclini C, Diegoli M, Mazzola S, Marini M, Del Greco M, Bonmassari R, Mase M, Ravelli F, Specchia C, Arbustini E
  Title
Autosomal recessive atrial dilated cardiomyopathy with standstill evolution associated with mutation of Natriuretic Peptide Precursor A.
  Journal
Circ Cardiovasc Genet 6:27-36 (2013)
DOI:10.1161/CIRCGENETICS.112.963520
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