KEGG   VARIANT: 151648v1
Entry
151648v1                      Variant                              
Name
SGO1 mutation
Gene
SGO1  shugoshin 1 [KO:K11580]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 609168
Network
nt06512  Chromosome cohesion and segregation
Disease
H02122  Chronic atrial and intestinal dysrhythmia
Reference
  Authors
Chetaille P, Preuss C, Burkhard S, Cote JM, Houde C, Castilloux J, Piche J, Gosset N, Leclerc S, Wunnemann F, Thibeault M, Gagnon C, Galli A, Tuck E, Hickson GR, El Amine N, Boufaied I, Lemyre E, de Santa Barbara P, Faure S, Jonzon A, Cameron M, Dietz HC, Gallo-McFarlane E, Benson DW, Moreau C, Labuda D, Zhan SH, Shen Y, Jomphe M, Jones SJ, Bakkers J, Andelfinger G
  Title
Mutations in SGOL1 cause a novel cohesinopathy affecting heart and gut rhythm.
  Journal
Nat Genet 46:1245-9 (2014)
DOI:10.1038/ng.3113
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