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- source_evidence_literature type ECO_0000212 NP304435.RAnP0cdYDvTC0hN5n0TOKa5fr6T8y-G__SqAqYgtwGXBg130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP304435.RAnP0cdYDvTC0hN5n0TOKa5fr6T8y-G__SqAqYgtwGXBg130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP304435.RAnP0cdYDvTC0hN5n0TOKa5fr6T8y-G__SqAqYgtwGXBg130_provenance.
- NP304435.RAnP0cdYDvTC0hN5n0TOKa5fr6T8y-G__SqAqYgtwGXBg130_assertion description "[This report delineates the phenotypic features in a cohort of 58 individuals with Smith-Magenis syndrome (SMS) and compares features of patients with the common microdeletion to those of patients with variable sized deletions, and the three previously reported patients who harbor a mutation in RAI1 (retinoic acid induced 1).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP304435.RAnP0cdYDvTC0hN5n0TOKa5fr6T8y-G__SqAqYgtwGXBg130_provenance.
- NP304435.RAnP0cdYDvTC0hN5n0TOKa5fr6T8y-G__SqAqYgtwGXBg130_assertion evidence source_evidence_literature NP304435.RAnP0cdYDvTC0hN5n0TOKa5fr6T8y-G__SqAqYgtwGXBg130_provenance.
- NP304435.RAnP0cdYDvTC0hN5n0TOKa5fr6T8y-G__SqAqYgtwGXBg130_assertion SIO_000772 14614393 NP304435.RAnP0cdYDvTC0hN5n0TOKa5fr6T8y-G__SqAqYgtwGXBg130_provenance.
- NP304435.RAnP0cdYDvTC0hN5n0TOKa5fr6T8y-G__SqAqYgtwGXBg130_assertion wasDerivedFrom befree-20140225 NP304435.RAnP0cdYDvTC0hN5n0TOKa5fr6T8y-G__SqAqYgtwGXBg130_provenance.
- NP304435.RAnP0cdYDvTC0hN5n0TOKa5fr6T8y-G__SqAqYgtwGXBg130_assertion wasGeneratedBy ECO_0000203 NP304435.RAnP0cdYDvTC0hN5n0TOKa5fr6T8y-G__SqAqYgtwGXBg130_provenance.
- befree-20140225 importedOn "2014-02-25" NP304435.RAnP0cdYDvTC0hN5n0TOKa5fr6T8y-G__SqAqYgtwGXBg130_provenance.