Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP935107.RAOSEMNsN4lCh5iAvX9YRDU3x_1nFU4Jr7q6wvxqmEkdM130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP935107.RAOSEMNsN4lCh5iAvX9YRDU3x_1nFU4Jr7q6wvxqmEkdM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP935107.RAOSEMNsN4lCh5iAvX9YRDU3x_1nFU4Jr7q6wvxqmEkdM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP935107.RAOSEMNsN4lCh5iAvX9YRDU3x_1nFU4Jr7q6wvxqmEkdM130_provenance.
- NP935107.RAOSEMNsN4lCh5iAvX9YRDU3x_1nFU4Jr7q6wvxqmEkdM130_assertion description "[Dominant mutations in the receptor calcium channel gene TRPV4 have been associated with a family of skeletal dysplasias (metatropic dysplasia, pseudo-Morquio type 2, spondylometaphyseal dysplasia, Kozlowski type, brachyolmia, and familial digital arthropathy) as well as with dominantly inherited neuropathies (hereditary motor and sensory neuropathy 2C, scapuloperoneal spinal muscular atrophy, and congenital distal spinal muscular atrophy).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP935107.RAOSEMNsN4lCh5iAvX9YRDU3x_1nFU4Jr7q6wvxqmEkdM130_provenance.
- NP935107.RAOSEMNsN4lCh5iAvX9YRDU3x_1nFU4Jr7q6wvxqmEkdM130_assertion evidence source_evidence_literature NP935107.RAOSEMNsN4lCh5iAvX9YRDU3x_1nFU4Jr7q6wvxqmEkdM130_provenance.
- NP935107.RAOSEMNsN4lCh5iAvX9YRDU3x_1nFU4Jr7q6wvxqmEkdM130_assertion SIO_000772 21964829 NP935107.RAOSEMNsN4lCh5iAvX9YRDU3x_1nFU4Jr7q6wvxqmEkdM130_provenance.
- NP935107.RAOSEMNsN4lCh5iAvX9YRDU3x_1nFU4Jr7q6wvxqmEkdM130_assertion wasDerivedFrom befree-20150227 NP935107.RAOSEMNsN4lCh5iAvX9YRDU3x_1nFU4Jr7q6wvxqmEkdM130_provenance.
- NP935107.RAOSEMNsN4lCh5iAvX9YRDU3x_1nFU4Jr7q6wvxqmEkdM130_assertion wasGeneratedBy ECO_0000203 NP935107.RAOSEMNsN4lCh5iAvX9YRDU3x_1nFU4Jr7q6wvxqmEkdM130_provenance.
- befree-20150227 importedOn "2015-02-27" NP935107.RAOSEMNsN4lCh5iAvX9YRDU3x_1nFU4Jr7q6wvxqmEkdM130_provenance.