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- source_evidence_literature type ECO_0000212 NP560079.RAyS0TJ6wUG3lssdwgEOpq6w3nXIZk8QW2N4_4V35aN2U130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP560079.RAyS0TJ6wUG3lssdwgEOpq6w3nXIZk8QW2N4_4V35aN2U130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP560079.RAyS0TJ6wUG3lssdwgEOpq6w3nXIZk8QW2N4_4V35aN2U130_provenance.
- NP560079.RAyS0TJ6wUG3lssdwgEOpq6w3nXIZk8QW2N4_4V35aN2U130_assertion description "[Our results indicate that MLL2 is the major gene for Kabuki syndrome with a wide spectrum of de novo mutations and strongly suggest further genetic heterogeneity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP560079.RAyS0TJ6wUG3lssdwgEOpq6w3nXIZk8QW2N4_4V35aN2U130_provenance.
- NP560079.RAyS0TJ6wUG3lssdwgEOpq6w3nXIZk8QW2N4_4V35aN2U130_assertion evidence source_evidence_literature NP560079.RAyS0TJ6wUG3lssdwgEOpq6w3nXIZk8QW2N4_4V35aN2U130_provenance.
- NP560079.RAyS0TJ6wUG3lssdwgEOpq6w3nXIZk8QW2N4_4V35aN2U130_assertion SIO_000772 21607748 NP560079.RAyS0TJ6wUG3lssdwgEOpq6w3nXIZk8QW2N4_4V35aN2U130_provenance.
- NP560079.RAyS0TJ6wUG3lssdwgEOpq6w3nXIZk8QW2N4_4V35aN2U130_assertion wasDerivedFrom befree-20140225 NP560079.RAyS0TJ6wUG3lssdwgEOpq6w3nXIZk8QW2N4_4V35aN2U130_provenance.
- NP560079.RAyS0TJ6wUG3lssdwgEOpq6w3nXIZk8QW2N4_4V35aN2U130_assertion wasGeneratedBy ECO_0000203 NP560079.RAyS0TJ6wUG3lssdwgEOpq6w3nXIZk8QW2N4_4V35aN2U130_provenance.
- befree-20140225 importedOn "2014-02-25" NP560079.RAyS0TJ6wUG3lssdwgEOpq6w3nXIZk8QW2N4_4V35aN2U130_provenance.