Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP854441.RAiZudrQJCUeQFCr9t5Wp-VuuwpNaGcDcGc_PL0FXEey4130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP854441.RAiZudrQJCUeQFCr9t5Wp-VuuwpNaGcDcGc_PL0FXEey4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP854441.RAiZudrQJCUeQFCr9t5Wp-VuuwpNaGcDcGc_PL0FXEey4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP854441.RAiZudrQJCUeQFCr9t5Wp-VuuwpNaGcDcGc_PL0FXEey4130_provenance.
- NP854441.RAiZudrQJCUeQFCr9t5Wp-VuuwpNaGcDcGc_PL0FXEey4130_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." NP854441.RAiZudrQJCUeQFCr9t5Wp-VuuwpNaGcDcGc_PL0FXEey4130_provenance.
- NP854441.RAiZudrQJCUeQFCr9t5Wp-VuuwpNaGcDcGc_PL0FXEey4130_assertion evidence source_evidence_literature NP854441.RAiZudrQJCUeQFCr9t5Wp-VuuwpNaGcDcGc_PL0FXEey4130_provenance.
- NP854441.RAiZudrQJCUeQFCr9t5Wp-VuuwpNaGcDcGc_PL0FXEey4130_assertion SIO_000772 7945197 NP854441.RAiZudrQJCUeQFCr9t5Wp-VuuwpNaGcDcGc_PL0FXEey4130_provenance.
- NP854441.RAiZudrQJCUeQFCr9t5Wp-VuuwpNaGcDcGc_PL0FXEey4130_assertion wasDerivedFrom befree-20140225 NP854441.RAiZudrQJCUeQFCr9t5Wp-VuuwpNaGcDcGc_PL0FXEey4130_provenance.
- NP854441.RAiZudrQJCUeQFCr9t5Wp-VuuwpNaGcDcGc_PL0FXEey4130_assertion wasGeneratedBy ECO_0000203 NP854441.RAiZudrQJCUeQFCr9t5Wp-VuuwpNaGcDcGc_PL0FXEey4130_provenance.
- befree-20140225 importedOn "2014-02-25" NP854441.RAiZudrQJCUeQFCr9t5Wp-VuuwpNaGcDcGc_PL0FXEey4130_provenance.