Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP419190.RAbSr3DDBpbNY_hnvz4Syj91G1ar5RIqd9OSja2_7VtFs130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP419190.RAbSr3DDBpbNY_hnvz4Syj91G1ar5RIqd9OSja2_7VtFs130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP419190.RAbSr3DDBpbNY_hnvz4Syj91G1ar5RIqd9OSja2_7VtFs130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP419190.RAbSr3DDBpbNY_hnvz4Syj91G1ar5RIqd9OSja2_7VtFs130_provenance.
- NP419190.RAbSr3DDBpbNY_hnvz4Syj91G1ar5RIqd9OSja2_7VtFs130_assertion description "[Novel mutation in the 5' splice site of exon 4 of the TCOF1 gene in the patient with Treacher Collins syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP419190.RAbSr3DDBpbNY_hnvz4Syj91G1ar5RIqd9OSja2_7VtFs130_provenance.
- NP419190.RAbSr3DDBpbNY_hnvz4Syj91G1ar5RIqd9OSja2_7VtFs130_assertion evidence source_evidence_literature NP419190.RAbSr3DDBpbNY_hnvz4Syj91G1ar5RIqd9OSja2_7VtFs130_provenance.
- NP419190.RAbSr3DDBpbNY_hnvz4Syj91G1ar5RIqd9OSja2_7VtFs130_assertion SIO_000772 14598341 NP419190.RAbSr3DDBpbNY_hnvz4Syj91G1ar5RIqd9OSja2_7VtFs130_provenance.
- NP419190.RAbSr3DDBpbNY_hnvz4Syj91G1ar5RIqd9OSja2_7VtFs130_assertion wasDerivedFrom befree-2016 NP419190.RAbSr3DDBpbNY_hnvz4Syj91G1ar5RIqd9OSja2_7VtFs130_provenance.
- NP419190.RAbSr3DDBpbNY_hnvz4Syj91G1ar5RIqd9OSja2_7VtFs130_assertion wasGeneratedBy ECO_0000203 NP419190.RAbSr3DDBpbNY_hnvz4Syj91G1ar5RIqd9OSja2_7VtFs130_provenance.
- befree-2016 importedOn "2016-02-19" NP419190.RAbSr3DDBpbNY_hnvz4Syj91G1ar5RIqd9OSja2_7VtFs130_provenance.