Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP708213.RAW69p0xOaxIrhYvE38dhYUqG1iZk83pfG9GSY50BnOH0130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP708213.RAW69p0xOaxIrhYvE38dhYUqG1iZk83pfG9GSY50BnOH0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP708213.RAW69p0xOaxIrhYvE38dhYUqG1iZk83pfG9GSY50BnOH0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP708213.RAW69p0xOaxIrhYvE38dhYUqG1iZk83pfG9GSY50BnOH0130_provenance.
- NP708213.RAW69p0xOaxIrhYvE38dhYUqG1iZk83pfG9GSY50BnOH0130_assertion description "[We identified two unrelated individuals with a complex cranial, cervical, auricular, and skeletal malformation syndrome with scapular and pelvic hypoplasia (Cousin syndrome) that recapitulates the dysmorphic phenotype seen in the Tbx15-deficient mice, droopy ear.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP708213.RAW69p0xOaxIrhYvE38dhYUqG1iZk83pfG9GSY50BnOH0130_provenance.
- NP708213.RAW69p0xOaxIrhYvE38dhYUqG1iZk83pfG9GSY50BnOH0130_assertion evidence source_evidence_literature NP708213.RAW69p0xOaxIrhYvE38dhYUqG1iZk83pfG9GSY50BnOH0130_provenance.
- NP708213.RAW69p0xOaxIrhYvE38dhYUqG1iZk83pfG9GSY50BnOH0130_assertion SIO_000772 19068278 NP708213.RAW69p0xOaxIrhYvE38dhYUqG1iZk83pfG9GSY50BnOH0130_provenance.
- NP708213.RAW69p0xOaxIrhYvE38dhYUqG1iZk83pfG9GSY50BnOH0130_assertion wasDerivedFrom befree-2016 NP708213.RAW69p0xOaxIrhYvE38dhYUqG1iZk83pfG9GSY50BnOH0130_provenance.
- NP708213.RAW69p0xOaxIrhYvE38dhYUqG1iZk83pfG9GSY50BnOH0130_assertion wasGeneratedBy ECO_0000203 NP708213.RAW69p0xOaxIrhYvE38dhYUqG1iZk83pfG9GSY50BnOH0130_provenance.
- befree-2016 importedOn "2016-02-19" NP708213.RAW69p0xOaxIrhYvE38dhYUqG1iZk83pfG9GSY50BnOH0130_provenance.