James R. Priest, et.al., De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects., PLoS genetics, 2016, 12

http://rdf.ncbi.nlm.nih.gov/pubmed/27058611

James R. Priest, et.al., De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects., PLoS genetics, 2016, 12

pubmed

表現型アノテーション

http://purl.org/net/cito/citesAsAuthority

• atrioventricular septal defect_Nr1d2<tm1Dgen>/Nr1d2<tm1Dgen>
  http://metadb.riken.jp/0010412B6129P2Nr1d2tm1DgenHNr1d2tm1DgenNr1d2tm1DgenNr1d2tm1Dgen
• abnormal heart morphology_Nr1d2<tm1Dgen>/Nr1d2<tm1Dgen>
  http://metadb.riken.jp/0000266B6129P2Nr1d2tm1DgenHNr1d2tm1DgenNr1d2tm1DgenNr1d2tm1Dgen
• neonatal lethality, incomplete penetrance_Nr1d2<tm1Dgen>/Nr1d2<tm1Dgen>
  http://metadb.riken.jp/0011088B6129P2Nr1d2tm1DgenHNr1d2tm1DgenNr1d2tm1DgenNr1d2tm1Dgen
• common atrioventricular valve_Nr1d2<tm1Dgen>/Nr1d2<tm1Dgen>
  http://metadb.riken.jp/0010607B6129P2Nr1d2tm1DgenHNr1d2tm1DgenNr1d2tm1DgenNr1d2tm1Dgen
• neonatal lethality, incomplete penetrance_Nr1d2<tm1Dgen>/Nr1d2<+>
  http://metadb.riken.jp/0011088B6129P2Nr1d2tm1DgenHNr1d2tm1DgenNr1d2Nr1d2tm1DgenNr1d2
• inlet ventricular septal defect_Nr1d2<tm1Dgen>/Nr1d2<tm1Dgen>
  http://metadb.riken.jp/0010419B6129P2Nr1d2tm1DgenHNr1d2tm1DgenNr1d2tm1DgenNr1d2tm1Dgen
• ostium primum atrial septal defect_Nr1d2<tm1Dgen>/Nr1d2<tm1Dgen>
  http://metadb.riken.jp/0010404B6129P2Nr1d2tm1DgenHNr1d2tm1DgenNr1d2tm1DgenNr1d2tm1Dgen