Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP765114.RA0MSVh7DFEj0RMsUcAEuwlJp-1MaFEpYRFWdJ5sE9oFo130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP765114.RA0MSVh7DFEj0RMsUcAEuwlJp-1MaFEpYRFWdJ5sE9oFo130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP765114.RA0MSVh7DFEj0RMsUcAEuwlJp-1MaFEpYRFWdJ5sE9oFo130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP765114.RA0MSVh7DFEj0RMsUcAEuwlJp-1MaFEpYRFWdJ5sE9oFo130_provenance.
- NP765114.RA0MSVh7DFEj0RMsUcAEuwlJp-1MaFEpYRFWdJ5sE9oFo130_assertion wasGeneratedBy ECO_0000203 NP765114.RA0MSVh7DFEj0RMsUcAEuwlJp-1MaFEpYRFWdJ5sE9oFo130_provenance.
- NP765114.RA0MSVh7DFEj0RMsUcAEuwlJp-1MaFEpYRFWdJ5sE9oFo130_assertion wasDerivedFrom befree-20140225 NP765114.RA0MSVh7DFEj0RMsUcAEuwlJp-1MaFEpYRFWdJ5sE9oFo130_provenance.
- NP765114.RA0MSVh7DFEj0RMsUcAEuwlJp-1MaFEpYRFWdJ5sE9oFo130_assertion SIO_000772 21091464 NP765114.RA0MSVh7DFEj0RMsUcAEuwlJp-1MaFEpYRFWdJ5sE9oFo130_provenance.
- NP765114.RA0MSVh7DFEj0RMsUcAEuwlJp-1MaFEpYRFWdJ5sE9oFo130_assertion evidence source_evidence_literature NP765114.RA0MSVh7DFEj0RMsUcAEuwlJp-1MaFEpYRFWdJ5sE9oFo130_provenance.
- NP765114.RA0MSVh7DFEj0RMsUcAEuwlJp-1MaFEpYRFWdJ5sE9oFo130_assertion description "[Although the exact function of this gene is unknown to date, the structural overlap of its encoded patched domain-containing protein 1, the transmembrane protein involved in the sonic hedgehog pathway, and its expression in human cortex and cerebellum as well as in mice and drosophila brain suggests a causative role of its nullisomy in the developmental phenotype of our family.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP765114.RA0MSVh7DFEj0RMsUcAEuwlJp-1MaFEpYRFWdJ5sE9oFo130_provenance.
- befree-20140225 importedOn "2014-02-25" NP765114.RA0MSVh7DFEj0RMsUcAEuwlJp-1MaFEpYRFWdJ5sE9oFo130_provenance.