Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1051700.RAPsHEKpghpfPvEsFBg19IVXTcpD7gTA_vYG5uyW1NvGM130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1051700.RAPsHEKpghpfPvEsFBg19IVXTcpD7gTA_vYG5uyW1NvGM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1051700.RAPsHEKpghpfPvEsFBg19IVXTcpD7gTA_vYG5uyW1NvGM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1051700.RAPsHEKpghpfPvEsFBg19IVXTcpD7gTA_vYG5uyW1NvGM130_provenance.
- NP1051700.RAPsHEKpghpfPvEsFBg19IVXTcpD7gTA_vYG5uyW1NvGM130_assertion description "[In cells from 86% of probands with nonlethal OI we identified biochemical alterations compatible with heterozygosity for a mutation that affected expression or structure of alpha chains of type I procollagen.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1051700.RAPsHEKpghpfPvEsFBg19IVXTcpD7gTA_vYG5uyW1NvGM130_provenance.
- NP1051700.RAPsHEKpghpfPvEsFBg19IVXTcpD7gTA_vYG5uyW1NvGM130_assertion evidence source_evidence_literature NP1051700.RAPsHEKpghpfPvEsFBg19IVXTcpD7gTA_vYG5uyW1NvGM130_provenance.
- NP1051700.RAPsHEKpghpfPvEsFBg19IVXTcpD7gTA_vYG5uyW1NvGM130_assertion SIO_000772 2339695 NP1051700.RAPsHEKpghpfPvEsFBg19IVXTcpD7gTA_vYG5uyW1NvGM130_provenance.
- NP1051700.RAPsHEKpghpfPvEsFBg19IVXTcpD7gTA_vYG5uyW1NvGM130_assertion wasDerivedFrom befree-2016 NP1051700.RAPsHEKpghpfPvEsFBg19IVXTcpD7gTA_vYG5uyW1NvGM130_provenance.
- NP1051700.RAPsHEKpghpfPvEsFBg19IVXTcpD7gTA_vYG5uyW1NvGM130_assertion wasGeneratedBy ECO_0000203 NP1051700.RAPsHEKpghpfPvEsFBg19IVXTcpD7gTA_vYG5uyW1NvGM130_provenance.
- befree-2016 importedOn "2016-02-19" NP1051700.RAPsHEKpghpfPvEsFBg19IVXTcpD7gTA_vYG5uyW1NvGM130_provenance.