Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP789402.RAuyVl9ayaF9P-dHos_u2CGW4-ZIwZBNBwW9v_CGvgYOM130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP789402.RAuyVl9ayaF9P-dHos_u2CGW4-ZIwZBNBwW9v_CGvgYOM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP789402.RAuyVl9ayaF9P-dHos_u2CGW4-ZIwZBNBwW9v_CGvgYOM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP789402.RAuyVl9ayaF9P-dHos_u2CGW4-ZIwZBNBwW9v_CGvgYOM130_provenance.
- NP789402.RAuyVl9ayaF9P-dHos_u2CGW4-ZIwZBNBwW9v_CGvgYOM130_assertion description "[The findings demonstrate that mutations in TRPV4 produce a phenotypic spectrum of skeletal dysplasias from the mild autosomal-dominant brachyolmia to SMDK to autosomal-dominant metatropic dysplasia, suggesting that these disorders should be grouped into a new bone dysplasia family.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP789402.RAuyVl9ayaF9P-dHos_u2CGW4-ZIwZBNBwW9v_CGvgYOM130_provenance.
- NP789402.RAuyVl9ayaF9P-dHos_u2CGW4-ZIwZBNBwW9v_CGvgYOM130_assertion evidence source_evidence_literature NP789402.RAuyVl9ayaF9P-dHos_u2CGW4-ZIwZBNBwW9v_CGvgYOM130_provenance.
- NP789402.RAuyVl9ayaF9P-dHos_u2CGW4-ZIwZBNBwW9v_CGvgYOM130_assertion SIO_000772 19232556 NP789402.RAuyVl9ayaF9P-dHos_u2CGW4-ZIwZBNBwW9v_CGvgYOM130_provenance.
- NP789402.RAuyVl9ayaF9P-dHos_u2CGW4-ZIwZBNBwW9v_CGvgYOM130_assertion wasDerivedFrom befree-20140225 NP789402.RAuyVl9ayaF9P-dHos_u2CGW4-ZIwZBNBwW9v_CGvgYOM130_provenance.
- NP789402.RAuyVl9ayaF9P-dHos_u2CGW4-ZIwZBNBwW9v_CGvgYOM130_assertion wasGeneratedBy ECO_0000203 NP789402.RAuyVl9ayaF9P-dHos_u2CGW4-ZIwZBNBwW9v_CGvgYOM130_provenance.
- befree-20140225 importedOn "2014-02-25" NP789402.RAuyVl9ayaF9P-dHos_u2CGW4-ZIwZBNBwW9v_CGvgYOM130_provenance.