Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP263012.RATqdcsl1YrYuRiHhjC25R9PfxJ-eQPUE28cmD8qU07v4130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP263012.RATqdcsl1YrYuRiHhjC25R9PfxJ-eQPUE28cmD8qU07v4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP263012.RATqdcsl1YrYuRiHhjC25R9PfxJ-eQPUE28cmD8qU07v4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP263012.RATqdcsl1YrYuRiHhjC25R9PfxJ-eQPUE28cmD8qU07v4130_provenance.
- NP263012.RATqdcsl1YrYuRiHhjC25R9PfxJ-eQPUE28cmD8qU07v4130_assertion description "[Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP263012.RATqdcsl1YrYuRiHhjC25R9PfxJ-eQPUE28cmD8qU07v4130_provenance.
- NP263012.RATqdcsl1YrYuRiHhjC25R9PfxJ-eQPUE28cmD8qU07v4130_assertion evidence source_evidence_literature NP263012.RATqdcsl1YrYuRiHhjC25R9PfxJ-eQPUE28cmD8qU07v4130_provenance.
- NP263012.RATqdcsl1YrYuRiHhjC25R9PfxJ-eQPUE28cmD8qU07v4130_assertion SIO_000772 10486316 NP263012.RATqdcsl1YrYuRiHhjC25R9PfxJ-eQPUE28cmD8qU07v4130_provenance.
- NP263012.RATqdcsl1YrYuRiHhjC25R9PfxJ-eQPUE28cmD8qU07v4130_assertion wasDerivedFrom befree-2016 NP263012.RATqdcsl1YrYuRiHhjC25R9PfxJ-eQPUE28cmD8qU07v4130_provenance.
- NP263012.RATqdcsl1YrYuRiHhjC25R9PfxJ-eQPUE28cmD8qU07v4130_assertion wasGeneratedBy ECO_0000203 NP263012.RATqdcsl1YrYuRiHhjC25R9PfxJ-eQPUE28cmD8qU07v4130_provenance.
- befree-2016 importedOn "2016-02-19" NP263012.RATqdcsl1YrYuRiHhjC25R9PfxJ-eQPUE28cmD8qU07v4130_provenance.