Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP669021.RA6WPD0W6dv3cZPG2TqP_JQAJ9ESwAP6pI_be3FhUr0SQ130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP669021.RA6WPD0W6dv3cZPG2TqP_JQAJ9ESwAP6pI_be3FhUr0SQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP669021.RA6WPD0W6dv3cZPG2TqP_JQAJ9ESwAP6pI_be3FhUr0SQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP669021.RA6WPD0W6dv3cZPG2TqP_JQAJ9ESwAP6pI_be3FhUr0SQ130_provenance.
- NP669021.RA6WPD0W6dv3cZPG2TqP_JQAJ9ESwAP6pI_be3FhUr0SQ130_assertion description "[A homozygous missense mutation in HERC2 associated with global developmental delay and autism spectrum disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP669021.RA6WPD0W6dv3cZPG2TqP_JQAJ9ESwAP6pI_be3FhUr0SQ130_provenance.
- NP669021.RA6WPD0W6dv3cZPG2TqP_JQAJ9ESwAP6pI_be3FhUr0SQ130_assertion evidence source_evidence_literature NP669021.RA6WPD0W6dv3cZPG2TqP_JQAJ9ESwAP6pI_be3FhUr0SQ130_provenance.
- NP669021.RA6WPD0W6dv3cZPG2TqP_JQAJ9ESwAP6pI_be3FhUr0SQ130_assertion SIO_000772 23065719 NP669021.RA6WPD0W6dv3cZPG2TqP_JQAJ9ESwAP6pI_be3FhUr0SQ130_provenance.
- NP669021.RA6WPD0W6dv3cZPG2TqP_JQAJ9ESwAP6pI_be3FhUr0SQ130_assertion wasDerivedFrom befree-20140225 NP669021.RA6WPD0W6dv3cZPG2TqP_JQAJ9ESwAP6pI_be3FhUr0SQ130_provenance.
- NP669021.RA6WPD0W6dv3cZPG2TqP_JQAJ9ESwAP6pI_be3FhUr0SQ130_assertion wasGeneratedBy ECO_0000203 NP669021.RA6WPD0W6dv3cZPG2TqP_JQAJ9ESwAP6pI_be3FhUr0SQ130_provenance.
- befree-20140225 importedOn "2014-02-25" NP669021.RA6WPD0W6dv3cZPG2TqP_JQAJ9ESwAP6pI_be3FhUr0SQ130_provenance.