Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP486559.RAQmKXVpHtxseDJxYCtCh6EL1VHl8W2yfcwEcaesk2OKs130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP486559.RAQmKXVpHtxseDJxYCtCh6EL1VHl8W2yfcwEcaesk2OKs130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP486559.RAQmKXVpHtxseDJxYCtCh6EL1VHl8W2yfcwEcaesk2OKs130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP486559.RAQmKXVpHtxseDJxYCtCh6EL1VHl8W2yfcwEcaesk2OKs130_provenance.
- NP486559.RAQmKXVpHtxseDJxYCtCh6EL1VHl8W2yfcwEcaesk2OKs130_assertion description "[Schmid metaphyseal chondrodysplasia (Schmid MCD, MIM 156500) is caused by mutations in the COL10A1 gene and is clinically characterized by short stature, bowed legs, and a waddling gait.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP486559.RAQmKXVpHtxseDJxYCtCh6EL1VHl8W2yfcwEcaesk2OKs130_provenance.
- NP486559.RAQmKXVpHtxseDJxYCtCh6EL1VHl8W2yfcwEcaesk2OKs130_assertion evidence source_evidence_literature NP486559.RAQmKXVpHtxseDJxYCtCh6EL1VHl8W2yfcwEcaesk2OKs130_provenance.
- NP486559.RAQmKXVpHtxseDJxYCtCh6EL1VHl8W2yfcwEcaesk2OKs130_assertion SIO_000772 15578582 NP486559.RAQmKXVpHtxseDJxYCtCh6EL1VHl8W2yfcwEcaesk2OKs130_provenance.
- NP486559.RAQmKXVpHtxseDJxYCtCh6EL1VHl8W2yfcwEcaesk2OKs130_assertion wasDerivedFrom befree-20140225 NP486559.RAQmKXVpHtxseDJxYCtCh6EL1VHl8W2yfcwEcaesk2OKs130_provenance.
- NP486559.RAQmKXVpHtxseDJxYCtCh6EL1VHl8W2yfcwEcaesk2OKs130_assertion wasGeneratedBy ECO_0000203 NP486559.RAQmKXVpHtxseDJxYCtCh6EL1VHl8W2yfcwEcaesk2OKs130_provenance.
- befree-20140225 importedOn "2014-02-25" NP486559.RAQmKXVpHtxseDJxYCtCh6EL1VHl8W2yfcwEcaesk2OKs130_provenance.