Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP503972.RAvetO4peS37KkE8UkkvvJXlo1E6VnvBHE_9IFr7EPn5k130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP503972.RAvetO4peS37KkE8UkkvvJXlo1E6VnvBHE_9IFr7EPn5k130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP503972.RAvetO4peS37KkE8UkkvvJXlo1E6VnvBHE_9IFr7EPn5k130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP503972.RAvetO4peS37KkE8UkkvvJXlo1E6VnvBHE_9IFr7EPn5k130_provenance.
- NP503972.RAvetO4peS37KkE8UkkvvJXlo1E6VnvBHE_9IFr7EPn5k130_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." NP503972.RAvetO4peS37KkE8UkkvvJXlo1E6VnvBHE_9IFr7EPn5k130_provenance.
- NP503972.RAvetO4peS37KkE8UkkvvJXlo1E6VnvBHE_9IFr7EPn5k130_assertion evidence source_evidence_literature NP503972.RAvetO4peS37KkE8UkkvvJXlo1E6VnvBHE_9IFr7EPn5k130_provenance.
- NP503972.RAvetO4peS37KkE8UkkvvJXlo1E6VnvBHE_9IFr7EPn5k130_assertion SIO_000772 3236351 NP503972.RAvetO4peS37KkE8UkkvvJXlo1E6VnvBHE_9IFr7EPn5k130_provenance.
- NP503972.RAvetO4peS37KkE8UkkvvJXlo1E6VnvBHE_9IFr7EPn5k130_assertion wasDerivedFrom befree-20140225 NP503972.RAvetO4peS37KkE8UkkvvJXlo1E6VnvBHE_9IFr7EPn5k130_provenance.
- NP503972.RAvetO4peS37KkE8UkkvvJXlo1E6VnvBHE_9IFr7EPn5k130_assertion wasGeneratedBy ECO_0000203 NP503972.RAvetO4peS37KkE8UkkvvJXlo1E6VnvBHE_9IFr7EPn5k130_provenance.
- befree-20140225 importedOn "2014-02-25" NP503972.RAvetO4peS37KkE8UkkvvJXlo1E6VnvBHE_9IFr7EPn5k130_provenance.