Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP365414.RAxfyTq5b1_MxEz5Jx7O7vI33v1idN8bdPuanfQg_va24130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP365414.RAxfyTq5b1_MxEz5Jx7O7vI33v1idN8bdPuanfQg_va24130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP365414.RAxfyTq5b1_MxEz5Jx7O7vI33v1idN8bdPuanfQg_va24130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP365414.RAxfyTq5b1_MxEz5Jx7O7vI33v1idN8bdPuanfQg_va24130_provenance.
- NP365414.RAxfyTq5b1_MxEz5Jx7O7vI33v1idN8bdPuanfQg_va24130_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." NP365414.RAxfyTq5b1_MxEz5Jx7O7vI33v1idN8bdPuanfQg_va24130_provenance.
- NP365414.RAxfyTq5b1_MxEz5Jx7O7vI33v1idN8bdPuanfQg_va24130_assertion evidence source_evidence_literature NP365414.RAxfyTq5b1_MxEz5Jx7O7vI33v1idN8bdPuanfQg_va24130_provenance.
- NP365414.RAxfyTq5b1_MxEz5Jx7O7vI33v1idN8bdPuanfQg_va24130_assertion SIO_000772 23335590 NP365414.RAxfyTq5b1_MxEz5Jx7O7vI33v1idN8bdPuanfQg_va24130_provenance.
- NP365414.RAxfyTq5b1_MxEz5Jx7O7vI33v1idN8bdPuanfQg_va24130_assertion wasDerivedFrom befree-20140225 NP365414.RAxfyTq5b1_MxEz5Jx7O7vI33v1idN8bdPuanfQg_va24130_provenance.
- NP365414.RAxfyTq5b1_MxEz5Jx7O7vI33v1idN8bdPuanfQg_va24130_assertion wasGeneratedBy ECO_0000203 NP365414.RAxfyTq5b1_MxEz5Jx7O7vI33v1idN8bdPuanfQg_va24130_provenance.
- befree-20140225 importedOn "2014-02-25" NP365414.RAxfyTq5b1_MxEz5Jx7O7vI33v1idN8bdPuanfQg_va24130_provenance.