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- source_evidence_literature type ECO_0000212 NP896458.RAE23bqYaXnZxFvzeKTDtdo4TudsuW2dG-TulTFKDerr8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP896458.RAE23bqYaXnZxFvzeKTDtdo4TudsuW2dG-TulTFKDerr8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP896458.RAE23bqYaXnZxFvzeKTDtdo4TudsuW2dG-TulTFKDerr8130_provenance.
- NP896458.RAE23bqYaXnZxFvzeKTDtdo4TudsuW2dG-TulTFKDerr8130_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." NP896458.RAE23bqYaXnZxFvzeKTDtdo4TudsuW2dG-TulTFKDerr8130_provenance.
- NP896458.RAE23bqYaXnZxFvzeKTDtdo4TudsuW2dG-TulTFKDerr8130_assertion evidence source_evidence_literature NP896458.RAE23bqYaXnZxFvzeKTDtdo4TudsuW2dG-TulTFKDerr8130_provenance.
- NP896458.RAE23bqYaXnZxFvzeKTDtdo4TudsuW2dG-TulTFKDerr8130_assertion SIO_000772 21607748 NP896458.RAE23bqYaXnZxFvzeKTDtdo4TudsuW2dG-TulTFKDerr8130_provenance.
- NP896458.RAE23bqYaXnZxFvzeKTDtdo4TudsuW2dG-TulTFKDerr8130_assertion wasDerivedFrom befree-2016 NP896458.RAE23bqYaXnZxFvzeKTDtdo4TudsuW2dG-TulTFKDerr8130_provenance.
- NP896458.RAE23bqYaXnZxFvzeKTDtdo4TudsuW2dG-TulTFKDerr8130_assertion wasGeneratedBy ECO_0000203 NP896458.RAE23bqYaXnZxFvzeKTDtdo4TudsuW2dG-TulTFKDerr8130_provenance.
- befree-2016 importedOn "2016-02-19" NP896458.RAE23bqYaXnZxFvzeKTDtdo4TudsuW2dG-TulTFKDerr8130_provenance.