Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP4586.RAsBvlbNOLq22zy7LflUVo49Te4vkbb9EJyIvOW1G44aE130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP4586.RAsBvlbNOLq22zy7LflUVo49Te4vkbb9EJyIvOW1G44aE130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP4586.RAsBvlbNOLq22zy7LflUVo49Te4vkbb9EJyIvOW1G44aE130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP4586.RAsBvlbNOLq22zy7LflUVo49Te4vkbb9EJyIvOW1G44aE130_provenance.
- NP4586.RAsBvlbNOLq22zy7LflUVo49Te4vkbb9EJyIvOW1G44aE130_assertion description "[Novel missense mutation (Leu466Arg) of the DAX1 gene in a patient with X-linked congenital adrenal hypoplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4586.RAsBvlbNOLq22zy7LflUVo49Te4vkbb9EJyIvOW1G44aE130_provenance.
- NP4586.RAsBvlbNOLq22zy7LflUVo49Te4vkbb9EJyIvOW1G44aE130_assertion evidence source_evidence_curated NP4586.RAsBvlbNOLq22zy7LflUVo49Te4vkbb9EJyIvOW1G44aE130_provenance.
- NP4586.RAsBvlbNOLq22zy7LflUVo49Te4vkbb9EJyIvOW1G44aE130_assertion SIO_000772 10323730 NP4586.RAsBvlbNOLq22zy7LflUVo49Te4vkbb9EJyIvOW1G44aE130_provenance.
- NP4586.RAsBvlbNOLq22zy7LflUVo49Te4vkbb9EJyIvOW1G44aE130_assertion wasDerivedFrom uniprot-20130724 NP4586.RAsBvlbNOLq22zy7LflUVo49Te4vkbb9EJyIvOW1G44aE130_provenance.
- NP4586.RAsBvlbNOLq22zy7LflUVo49Te4vkbb9EJyIvOW1G44aE130_assertion wasGeneratedBy ECO_0000218 NP4586.RAsBvlbNOLq22zy7LflUVo49Te4vkbb9EJyIvOW1G44aE130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP4586.RAsBvlbNOLq22zy7LflUVo49Te4vkbb9EJyIvOW1G44aE130_provenance.