Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1327718.RA9jSpF2fU-ORiCIAEUPaGwmGNIq3wh2V8GBbtjIsTnF0130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1327718.RA9jSpF2fU-ORiCIAEUPaGwmGNIq3wh2V8GBbtjIsTnF0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1327718.RA9jSpF2fU-ORiCIAEUPaGwmGNIq3wh2V8GBbtjIsTnF0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1327718.RA9jSpF2fU-ORiCIAEUPaGwmGNIq3wh2V8GBbtjIsTnF0130_provenance.
- NP1327718.RA9jSpF2fU-ORiCIAEUPaGwmGNIq3wh2V8GBbtjIsTnF0130_assertion description "[A heterozygous de novo G to A point mutation in intron 8 at the +5 position of the splice donor site of the gene for the pro alpha 1(I) chain of type I procollagen, COL1A1, was defined in a patient with type IV osteogenesis imperfecta.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1327718.RA9jSpF2fU-ORiCIAEUPaGwmGNIq3wh2V8GBbtjIsTnF0130_provenance.
- NP1327718.RA9jSpF2fU-ORiCIAEUPaGwmGNIq3wh2V8GBbtjIsTnF0130_assertion evidence source_evidence_literature NP1327718.RA9jSpF2fU-ORiCIAEUPaGwmGNIq3wh2V8GBbtjIsTnF0130_provenance.
- NP1327718.RA9jSpF2fU-ORiCIAEUPaGwmGNIq3wh2V8GBbtjIsTnF0130_assertion SIO_000772 7945197 NP1327718.RA9jSpF2fU-ORiCIAEUPaGwmGNIq3wh2V8GBbtjIsTnF0130_provenance.
- NP1327718.RA9jSpF2fU-ORiCIAEUPaGwmGNIq3wh2V8GBbtjIsTnF0130_assertion wasDerivedFrom befree-2016 NP1327718.RA9jSpF2fU-ORiCIAEUPaGwmGNIq3wh2V8GBbtjIsTnF0130_provenance.
- NP1327718.RA9jSpF2fU-ORiCIAEUPaGwmGNIq3wh2V8GBbtjIsTnF0130_assertion wasGeneratedBy ECO_0000203 NP1327718.RA9jSpF2fU-ORiCIAEUPaGwmGNIq3wh2V8GBbtjIsTnF0130_provenance.
- befree-2016 importedOn "2016-02-19" NP1327718.RA9jSpF2fU-ORiCIAEUPaGwmGNIq3wh2V8GBbtjIsTnF0130_provenance.