Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP20949.RA93gzOchdsh1Azzon1WzFprIzvPHc9zv9Ml-d-POS0G8130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP20949.RA93gzOchdsh1Azzon1WzFprIzvPHc9zv9Ml-d-POS0G8130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP20949.RA93gzOchdsh1Azzon1WzFprIzvPHc9zv9Ml-d-POS0G8130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP20949.RA93gzOchdsh1Azzon1WzFprIzvPHc9zv9Ml-d-POS0G8130_provenance.
- NP20949.RA93gzOchdsh1Azzon1WzFprIzvPHc9zv9Ml-d-POS0G8130_assertion wasGeneratedBy ECO_0000218 NP20949.RA93gzOchdsh1Azzon1WzFprIzvPHc9zv9Ml-d-POS0G8130_provenance.
- NP20949.RA93gzOchdsh1Azzon1WzFprIzvPHc9zv9Ml-d-POS0G8130_assertion wasDerivedFrom ctd_human-20130708 NP20949.RA93gzOchdsh1Azzon1WzFprIzvPHc9zv9Ml-d-POS0G8130_provenance.
- NP20949.RA93gzOchdsh1Azzon1WzFprIzvPHc9zv9Ml-d-POS0G8130_assertion SIO_000772 21552264 NP20949.RA93gzOchdsh1Azzon1WzFprIzvPHc9zv9Ml-d-POS0G8130_provenance.
- NP20949.RA93gzOchdsh1Azzon1WzFprIzvPHc9zv9Ml-d-POS0G8130_assertion evidence source_evidence_curated NP20949.RA93gzOchdsh1Azzon1WzFprIzvPHc9zv9Ml-d-POS0G8130_provenance.
- NP20949.RA93gzOchdsh1Azzon1WzFprIzvPHc9zv9Ml-d-POS0G8130_assertion description "[Here we report mutations in KIF7 in individuals with hydrolethalus and acrocallosal syndromes, two multiple malformation disorders with overlapping features that include polydactyly, brain abnormalities and cleft palate.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP20949.RA93gzOchdsh1Azzon1WzFprIzvPHc9zv9Ml-d-POS0G8130_provenance.
- ctd_human-20130708 importedOn "2013-07-24" NP20949.RA93gzOchdsh1Azzon1WzFprIzvPHc9zv9Ml-d-POS0G8130_provenance.