Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP917822.RAWNmZWGKef1mbR_iZWWwOUxQmeIpWITgxUYG0mydWO0Q130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP917822.RAWNmZWGKef1mbR_iZWWwOUxQmeIpWITgxUYG0mydWO0Q130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP917822.RAWNmZWGKef1mbR_iZWWwOUxQmeIpWITgxUYG0mydWO0Q130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP917822.RAWNmZWGKef1mbR_iZWWwOUxQmeIpWITgxUYG0mydWO0Q130_provenance.
- NP917822.RAWNmZWGKef1mbR_iZWWwOUxQmeIpWITgxUYG0mydWO0Q130_assertion description "[Craniofrontonasal syndrome (CFNS), an X-linked disorder caused by loss-of-function mutations of EFNB1, exhibits a paradoxical sex reversal in phenotypic severity: females characteristically have frontonasal dysplasia, craniosynostosis and additional minor malformations, but males are usually more mildly affected with hypertelorism as the only feature.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP917822.RAWNmZWGKef1mbR_iZWWwOUxQmeIpWITgxUYG0mydWO0Q130_provenance.
- NP917822.RAWNmZWGKef1mbR_iZWWwOUxQmeIpWITgxUYG0mydWO0Q130_assertion evidence source_evidence_literature NP917822.RAWNmZWGKef1mbR_iZWWwOUxQmeIpWITgxUYG0mydWO0Q130_provenance.
- NP917822.RAWNmZWGKef1mbR_iZWWwOUxQmeIpWITgxUYG0mydWO0Q130_assertion SIO_000772 23335590 NP917822.RAWNmZWGKef1mbR_iZWWwOUxQmeIpWITgxUYG0mydWO0Q130_provenance.
- NP917822.RAWNmZWGKef1mbR_iZWWwOUxQmeIpWITgxUYG0mydWO0Q130_assertion wasDerivedFrom befree-20140225 NP917822.RAWNmZWGKef1mbR_iZWWwOUxQmeIpWITgxUYG0mydWO0Q130_provenance.
- NP917822.RAWNmZWGKef1mbR_iZWWwOUxQmeIpWITgxUYG0mydWO0Q130_assertion wasGeneratedBy ECO_0000203 NP917822.RAWNmZWGKef1mbR_iZWWwOUxQmeIpWITgxUYG0mydWO0Q130_provenance.
- befree-20140225 importedOn "2014-02-25" NP917822.RAWNmZWGKef1mbR_iZWWwOUxQmeIpWITgxUYG0mydWO0Q130_provenance.