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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking NKX2-5 and atrioventricular block in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
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  • The annotation was made from Gutierrez-Roelens I, etal., Eur J Hum Genet. 2006 Dec;14(12):1313-6. Epub 2006 Aug 9.
  • 2 additional annotations were made from Gutierrez-Roelens I, etal., Eur J Hum Genet. 2006 Dec;14(12):1313-6. Epub 2006 Aug 9.
  • 44 RGD objects have been annotated to atrioventricular block  (DOID:0050820)
  • 24 papers in RGD have been used to annotate NKX2-5
  • Curation Notes: DNA:nonsense mutation:exon:p.Y256X (c.768T>A) (human)


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