Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP867760.RAiyVYhO325slEhRBU_MMK8ruU3BqOaBQ7E6CRqF0g3A0130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP867760.RAiyVYhO325slEhRBU_MMK8ruU3BqOaBQ7E6CRqF0g3A0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP867760.RAiyVYhO325slEhRBU_MMK8ruU3BqOaBQ7E6CRqF0g3A0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP867760.RAiyVYhO325slEhRBU_MMK8ruU3BqOaBQ7E6CRqF0g3A0130_provenance.
- NP867760.RAiyVYhO325slEhRBU_MMK8ruU3BqOaBQ7E6CRqF0g3A0130_assertion description "[We had previously demonstrated that a complete loss of function in ZMPSTE24 was lethal in the neonatal period, whereas compound heterozygous mutations including one PTC and one missense mutation were associated with type B mandibuloacral dysplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP867760.RAiyVYhO325slEhRBU_MMK8ruU3BqOaBQ7E6CRqF0g3A0130_provenance.
- NP867760.RAiyVYhO325slEhRBU_MMK8ruU3BqOaBQ7E6CRqF0g3A0130_assertion evidence source_evidence_literature NP867760.RAiyVYhO325slEhRBU_MMK8ruU3BqOaBQ7E6CRqF0g3A0130_provenance.
- NP867760.RAiyVYhO325slEhRBU_MMK8ruU3BqOaBQ7E6CRqF0g3A0130_assertion SIO_000772 21267004 NP867760.RAiyVYhO325slEhRBU_MMK8ruU3BqOaBQ7E6CRqF0g3A0130_provenance.
- NP867760.RAiyVYhO325slEhRBU_MMK8ruU3BqOaBQ7E6CRqF0g3A0130_assertion wasDerivedFrom befree-2016 NP867760.RAiyVYhO325slEhRBU_MMK8ruU3BqOaBQ7E6CRqF0g3A0130_provenance.
- NP867760.RAiyVYhO325slEhRBU_MMK8ruU3BqOaBQ7E6CRqF0g3A0130_assertion wasGeneratedBy ECO_0000203 NP867760.RAiyVYhO325slEhRBU_MMK8ruU3BqOaBQ7E6CRqF0g3A0130_provenance.
- befree-2016 importedOn "2016-02-19" NP867760.RAiyVYhO325slEhRBU_MMK8ruU3BqOaBQ7E6CRqF0g3A0130_provenance.