Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP31553.RAPXO5eL2zPAdm6m7nmC2UHoHiHDx1ssIH293PCN-WDSg130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP31553.RAPXO5eL2zPAdm6m7nmC2UHoHiHDx1ssIH293PCN-WDSg130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP31553.RAPXO5eL2zPAdm6m7nmC2UHoHiHDx1ssIH293PCN-WDSg130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP31553.RAPXO5eL2zPAdm6m7nmC2UHoHiHDx1ssIH293PCN-WDSg130_provenance.
- NP31553.RAPXO5eL2zPAdm6m7nmC2UHoHiHDx1ssIH293PCN-WDSg130_assertion description "[Using a positional candidacy strategy, we mapped TFAP2B, encoding a transcription factor expressed in neural crest cells, to the Char syndrome critical region and identified missense mutations altering conserved residues in two affected families.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP31553.RAPXO5eL2zPAdm6m7nmC2UHoHiHDx1ssIH293PCN-WDSg130_provenance.
- NP31553.RAPXO5eL2zPAdm6m7nmC2UHoHiHDx1ssIH293PCN-WDSg130_assertion evidence source_evidence_curated NP31553.RAPXO5eL2zPAdm6m7nmC2UHoHiHDx1ssIH293PCN-WDSg130_provenance.
- NP31553.RAPXO5eL2zPAdm6m7nmC2UHoHiHDx1ssIH293PCN-WDSg130_assertion SIO_000772 10802654 NP31553.RAPXO5eL2zPAdm6m7nmC2UHoHiHDx1ssIH293PCN-WDSg130_provenance.
- NP31553.RAPXO5eL2zPAdm6m7nmC2UHoHiHDx1ssIH293PCN-WDSg130_assertion wasDerivedFrom ctd_human-20130708 NP31553.RAPXO5eL2zPAdm6m7nmC2UHoHiHDx1ssIH293PCN-WDSg130_provenance.
- NP31553.RAPXO5eL2zPAdm6m7nmC2UHoHiHDx1ssIH293PCN-WDSg130_assertion wasGeneratedBy ECO_0000218 NP31553.RAPXO5eL2zPAdm6m7nmC2UHoHiHDx1ssIH293PCN-WDSg130_provenance.
- ctd_human-20130708 importedOn "2013-07-24" NP31553.RAPXO5eL2zPAdm6m7nmC2UHoHiHDx1ssIH293PCN-WDSg130_provenance.