Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP717815.RAFW83V0j2KaaYDJSUSOCP4N03seUFgXN5SJ4LFEQwT40130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP717815.RAFW83V0j2KaaYDJSUSOCP4N03seUFgXN5SJ4LFEQwT40130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP717815.RAFW83V0j2KaaYDJSUSOCP4N03seUFgXN5SJ4LFEQwT40130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP717815.RAFW83V0j2KaaYDJSUSOCP4N03seUFgXN5SJ4LFEQwT40130_provenance.
- NP717815.RAFW83V0j2KaaYDJSUSOCP4N03seUFgXN5SJ4LFEQwT40130_assertion description "[The c.194T>C mutation in HSD17B10 can be identified by the restriction fragment polymorphism analysis, thereby facilitating the screening of this novel mutation in individuals with intellectual disability of unknown etiology and their family members much easier.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP717815.RAFW83V0j2KaaYDJSUSOCP4N03seUFgXN5SJ4LFEQwT40130_provenance.
- NP717815.RAFW83V0j2KaaYDJSUSOCP4N03seUFgXN5SJ4LFEQwT40130_assertion evidence source_evidence_literature NP717815.RAFW83V0j2KaaYDJSUSOCP4N03seUFgXN5SJ4LFEQwT40130_provenance.
- NP717815.RAFW83V0j2KaaYDJSUSOCP4N03seUFgXN5SJ4LFEQwT40130_assertion SIO_000772 22132097 NP717815.RAFW83V0j2KaaYDJSUSOCP4N03seUFgXN5SJ4LFEQwT40130_provenance.
- NP717815.RAFW83V0j2KaaYDJSUSOCP4N03seUFgXN5SJ4LFEQwT40130_assertion wasDerivedFrom befree-20140225 NP717815.RAFW83V0j2KaaYDJSUSOCP4N03seUFgXN5SJ4LFEQwT40130_provenance.
- NP717815.RAFW83V0j2KaaYDJSUSOCP4N03seUFgXN5SJ4LFEQwT40130_assertion wasGeneratedBy ECO_0000203 NP717815.RAFW83V0j2KaaYDJSUSOCP4N03seUFgXN5SJ4LFEQwT40130_provenance.
- befree-20140225 importedOn "2014-02-25" NP717815.RAFW83V0j2KaaYDJSUSOCP4N03seUFgXN5SJ4LFEQwT40130_provenance.