Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP927887.RAdCwfZYrkaVxD9iJm224W8IPbX0uaUNLYuaJHOzBNnyU130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP927887.RAdCwfZYrkaVxD9iJm224W8IPbX0uaUNLYuaJHOzBNnyU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP927887.RAdCwfZYrkaVxD9iJm224W8IPbX0uaUNLYuaJHOzBNnyU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP927887.RAdCwfZYrkaVxD9iJm224W8IPbX0uaUNLYuaJHOzBNnyU130_provenance.
- NP927887.RAdCwfZYrkaVxD9iJm224W8IPbX0uaUNLYuaJHOzBNnyU130_assertion description "[Although some degree of restriction of movements is not uncommon in fetuses with skeletal dysplasia, akinesia as leading sign is unusual and suggests that certain TRPV4 mutations produce both chondrodysplasia and a peripheral neuropathy resulting in a severe overlap phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP927887.RAdCwfZYrkaVxD9iJm224W8IPbX0uaUNLYuaJHOzBNnyU130_provenance.
- NP927887.RAdCwfZYrkaVxD9iJm224W8IPbX0uaUNLYuaJHOzBNnyU130_assertion evidence source_evidence_literature NP927887.RAdCwfZYrkaVxD9iJm224W8IPbX0uaUNLYuaJHOzBNnyU130_provenance.
- NP927887.RAdCwfZYrkaVxD9iJm224W8IPbX0uaUNLYuaJHOzBNnyU130_assertion SIO_000772 21964829 NP927887.RAdCwfZYrkaVxD9iJm224W8IPbX0uaUNLYuaJHOzBNnyU130_provenance.
- NP927887.RAdCwfZYrkaVxD9iJm224W8IPbX0uaUNLYuaJHOzBNnyU130_assertion wasDerivedFrom befree-2016 NP927887.RAdCwfZYrkaVxD9iJm224W8IPbX0uaUNLYuaJHOzBNnyU130_provenance.
- NP927887.RAdCwfZYrkaVxD9iJm224W8IPbX0uaUNLYuaJHOzBNnyU130_assertion wasGeneratedBy ECO_0000203 NP927887.RAdCwfZYrkaVxD9iJm224W8IPbX0uaUNLYuaJHOzBNnyU130_provenance.
- befree-2016 importedOn "2016-02-19" NP927887.RAdCwfZYrkaVxD9iJm224W8IPbX0uaUNLYuaJHOzBNnyU130_provenance.