Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP410347.RAQ7mmAm3m3-5P3HYuWsUI2GvUq95eBP2hj5ZLM28oLGA130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP410347.RAQ7mmAm3m3-5P3HYuWsUI2GvUq95eBP2hj5ZLM28oLGA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP410347.RAQ7mmAm3m3-5P3HYuWsUI2GvUq95eBP2hj5ZLM28oLGA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP410347.RAQ7mmAm3m3-5P3HYuWsUI2GvUq95eBP2hj5ZLM28oLGA130_provenance.
- NP410347.RAQ7mmAm3m3-5P3HYuWsUI2GvUq95eBP2hj5ZLM28oLGA130_assertion description "[Comparison of the phenotypic features in a total of 19 patients with del(17)(p11.2p11.2) shows a consistent clinical phenotype with moderate to severe mental retardation, microbrachycelphaly, prominent forehead, broad face, flat midface, prognathism, short, broad hands, and behavioural anomalies such as self-mutilation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP410347.RAQ7mmAm3m3-5P3HYuWsUI2GvUq95eBP2hj5ZLM28oLGA130_provenance.
- NP410347.RAQ7mmAm3m3-5P3HYuWsUI2GvUq95eBP2hj5ZLM28oLGA130_assertion evidence source_evidence_literature NP410347.RAQ7mmAm3m3-5P3HYuWsUI2GvUq95eBP2hj5ZLM28oLGA130_provenance.
- NP410347.RAQ7mmAm3m3-5P3HYuWsUI2GvUq95eBP2hj5ZLM28oLGA130_assertion SIO_000772 3236351 NP410347.RAQ7mmAm3m3-5P3HYuWsUI2GvUq95eBP2hj5ZLM28oLGA130_provenance.
- NP410347.RAQ7mmAm3m3-5P3HYuWsUI2GvUq95eBP2hj5ZLM28oLGA130_assertion wasDerivedFrom befree-20140225 NP410347.RAQ7mmAm3m3-5P3HYuWsUI2GvUq95eBP2hj5ZLM28oLGA130_provenance.
- NP410347.RAQ7mmAm3m3-5P3HYuWsUI2GvUq95eBP2hj5ZLM28oLGA130_assertion wasGeneratedBy ECO_0000203 NP410347.RAQ7mmAm3m3-5P3HYuWsUI2GvUq95eBP2hj5ZLM28oLGA130_provenance.
- befree-20140225 importedOn "2014-02-25" NP410347.RAQ7mmAm3m3-5P3HYuWsUI2GvUq95eBP2hj5ZLM28oLGA130_provenance.