Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP216902.RAckNy8hfyb6wZitqq9C9OFoIA-zyfbBGhao_2eQJbDkw130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP216902.RAckNy8hfyb6wZitqq9C9OFoIA-zyfbBGhao_2eQJbDkw130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP216902.RAckNy8hfyb6wZitqq9C9OFoIA-zyfbBGhao_2eQJbDkw130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP216902.RAckNy8hfyb6wZitqq9C9OFoIA-zyfbBGhao_2eQJbDkw130_provenance.
- NP216902.RAckNy8hfyb6wZitqq9C9OFoIA-zyfbBGhao_2eQJbDkw130_assertion description "[We found three novel mutations (S277X in the EXT1 gene, and G194X and 939+1G > A in the EXT2 gene) and a known mutation (Q172X in the EXT2 gene) in hereditary multiple exostoses]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP216902.RAckNy8hfyb6wZitqq9C9OFoIA-zyfbBGhao_2eQJbDkw130_provenance.
- NP216902.RAckNy8hfyb6wZitqq9C9OFoIA-zyfbBGhao_2eQJbDkw130_assertion evidence source_evidence_literature NP216902.RAckNy8hfyb6wZitqq9C9OFoIA-zyfbBGhao_2eQJbDkw130_provenance.
- NP216902.RAckNy8hfyb6wZitqq9C9OFoIA-zyfbBGhao_2eQJbDkw130_assertion SIO_000772 16638657 NP216902.RAckNy8hfyb6wZitqq9C9OFoIA-zyfbBGhao_2eQJbDkw130_provenance.
- NP216902.RAckNy8hfyb6wZitqq9C9OFoIA-zyfbBGhao_2eQJbDkw130_assertion wasDerivedFrom lhgdn-20090331 NP216902.RAckNy8hfyb6wZitqq9C9OFoIA-zyfbBGhao_2eQJbDkw130_provenance.
- NP216902.RAckNy8hfyb6wZitqq9C9OFoIA-zyfbBGhao_2eQJbDkw130_assertion wasGeneratedBy ECO_0000203 NP216902.RAckNy8hfyb6wZitqq9C9OFoIA-zyfbBGhao_2eQJbDkw130_provenance.
- lhgdn-20090331 importedOn "2009-03-31" NP216902.RAckNy8hfyb6wZitqq9C9OFoIA-zyfbBGhao_2eQJbDkw130_provenance.