Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP682503.RArK4DZ0D3_DlY46x_DjOOubCRYCIAKeKEJi5Wavt4dfU130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP682503.RArK4DZ0D3_DlY46x_DjOOubCRYCIAKeKEJi5Wavt4dfU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP682503.RArK4DZ0D3_DlY46x_DjOOubCRYCIAKeKEJi5Wavt4dfU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP682503.RArK4DZ0D3_DlY46x_DjOOubCRYCIAKeKEJi5Wavt4dfU130_provenance.
- NP682503.RArK4DZ0D3_DlY46x_DjOOubCRYCIAKeKEJi5Wavt4dfU130_assertion description "[We have identified by sequence analysis a novel missense heterozygous mutation in the NKX2-5 gene, specifically a substitution of glutamine for proline at codon 160, in a Moroccan family, the affected members having a deficiency of the floor of the oval fossa and atrioventricular block.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP682503.RArK4DZ0D3_DlY46x_DjOOubCRYCIAKeKEJi5Wavt4dfU130_provenance.
- NP682503.RArK4DZ0D3_DlY46x_DjOOubCRYCIAKeKEJi5Wavt4dfU130_assertion evidence source_evidence_literature NP682503.RArK4DZ0D3_DlY46x_DjOOubCRYCIAKeKEJi5Wavt4dfU130_provenance.
- NP682503.RArK4DZ0D3_DlY46x_DjOOubCRYCIAKeKEJi5Wavt4dfU130_assertion SIO_000772 17184575 NP682503.RArK4DZ0D3_DlY46x_DjOOubCRYCIAKeKEJi5Wavt4dfU130_provenance.
- NP682503.RArK4DZ0D3_DlY46x_DjOOubCRYCIAKeKEJi5Wavt4dfU130_assertion wasDerivedFrom befree-20140225 NP682503.RArK4DZ0D3_DlY46x_DjOOubCRYCIAKeKEJi5Wavt4dfU130_provenance.
- NP682503.RArK4DZ0D3_DlY46x_DjOOubCRYCIAKeKEJi5Wavt4dfU130_assertion wasGeneratedBy ECO_0000203 NP682503.RArK4DZ0D3_DlY46x_DjOOubCRYCIAKeKEJi5Wavt4dfU130_provenance.
- befree-20140225 importedOn "2014-02-25" NP682503.RArK4DZ0D3_DlY46x_DjOOubCRYCIAKeKEJi5Wavt4dfU130_provenance.