Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP814797.RAB0c2YUcAMhvuCuOXoX68C8pu4AVXFB3Y7lzY_XjUk5w130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP814797.RAB0c2YUcAMhvuCuOXoX68C8pu4AVXFB3Y7lzY_XjUk5w130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP814797.RAB0c2YUcAMhvuCuOXoX68C8pu4AVXFB3Y7lzY_XjUk5w130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP814797.RAB0c2YUcAMhvuCuOXoX68C8pu4AVXFB3Y7lzY_XjUk5w130_provenance.
- NP814797.RAB0c2YUcAMhvuCuOXoX68C8pu4AVXFB3Y7lzY_XjUk5w130_assertion description "[We conclude that SED Maroteaux type and parastremmatic dysplasia are part of the TRPV4 dysplasia family and that TRPV4 mutations show considerable variability in phenotypic expression resulting in distinct clinical-radiographic phenotypes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP814797.RAB0c2YUcAMhvuCuOXoX68C8pu4AVXFB3Y7lzY_XjUk5w130_provenance.
- NP814797.RAB0c2YUcAMhvuCuOXoX68C8pu4AVXFB3Y7lzY_XjUk5w130_assertion evidence source_evidence_literature NP814797.RAB0c2YUcAMhvuCuOXoX68C8pu4AVXFB3Y7lzY_XjUk5w130_provenance.
- NP814797.RAB0c2YUcAMhvuCuOXoX68C8pu4AVXFB3Y7lzY_XjUk5w130_assertion SIO_000772 20503319 NP814797.RAB0c2YUcAMhvuCuOXoX68C8pu4AVXFB3Y7lzY_XjUk5w130_provenance.
- NP814797.RAB0c2YUcAMhvuCuOXoX68C8pu4AVXFB3Y7lzY_XjUk5w130_assertion wasDerivedFrom befree-2016 NP814797.RAB0c2YUcAMhvuCuOXoX68C8pu4AVXFB3Y7lzY_XjUk5w130_provenance.
- NP814797.RAB0c2YUcAMhvuCuOXoX68C8pu4AVXFB3Y7lzY_XjUk5w130_assertion wasGeneratedBy ECO_0000203 NP814797.RAB0c2YUcAMhvuCuOXoX68C8pu4AVXFB3Y7lzY_XjUk5w130_provenance.
- befree-2016 importedOn "2016-02-19" NP814797.RAB0c2YUcAMhvuCuOXoX68C8pu4AVXFB3Y7lzY_XjUk5w130_provenance.