Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP364018.RAjIUIskg41QF_i8kjAVSNpx_xTStzEnU6CVn3631--jc130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP364018.RAjIUIskg41QF_i8kjAVSNpx_xTStzEnU6CVn3631--jc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP364018.RAjIUIskg41QF_i8kjAVSNpx_xTStzEnU6CVn3631--jc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP364018.RAjIUIskg41QF_i8kjAVSNpx_xTStzEnU6CVn3631--jc130_provenance.
- NP364018.RAjIUIskg41QF_i8kjAVSNpx_xTStzEnU6CVn3631--jc130_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." NP364018.RAjIUIskg41QF_i8kjAVSNpx_xTStzEnU6CVn3631--jc130_provenance.
- NP364018.RAjIUIskg41QF_i8kjAVSNpx_xTStzEnU6CVn3631--jc130_assertion evidence source_evidence_literature NP364018.RAjIUIskg41QF_i8kjAVSNpx_xTStzEnU6CVn3631--jc130_provenance.
- NP364018.RAjIUIskg41QF_i8kjAVSNpx_xTStzEnU6CVn3631--jc130_assertion SIO_000772 21964829 NP364018.RAjIUIskg41QF_i8kjAVSNpx_xTStzEnU6CVn3631--jc130_provenance.
- NP364018.RAjIUIskg41QF_i8kjAVSNpx_xTStzEnU6CVn3631--jc130_assertion wasDerivedFrom befree-20140225 NP364018.RAjIUIskg41QF_i8kjAVSNpx_xTStzEnU6CVn3631--jc130_provenance.
- NP364018.RAjIUIskg41QF_i8kjAVSNpx_xTStzEnU6CVn3631--jc130_assertion wasGeneratedBy ECO_0000203 NP364018.RAjIUIskg41QF_i8kjAVSNpx_xTStzEnU6CVn3631--jc130_provenance.
- befree-20140225 importedOn "2014-02-25" NP364018.RAjIUIskg41QF_i8kjAVSNpx_xTStzEnU6CVn3631--jc130_provenance.