Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP927884.RATeKpt2wS2TiZMH6Zpo4WDqdh9pTaeETpFnRWXg7GovQ130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP927884.RATeKpt2wS2TiZMH6Zpo4WDqdh9pTaeETpFnRWXg7GovQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP927884.RATeKpt2wS2TiZMH6Zpo4WDqdh9pTaeETpFnRWXg7GovQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP927884.RATeKpt2wS2TiZMH6Zpo4WDqdh9pTaeETpFnRWXg7GovQ130_provenance.
- NP927884.RATeKpt2wS2TiZMH6Zpo4WDqdh9pTaeETpFnRWXg7GovQ130_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." NP927884.RATeKpt2wS2TiZMH6Zpo4WDqdh9pTaeETpFnRWXg7GovQ130_provenance.
- NP927884.RATeKpt2wS2TiZMH6Zpo4WDqdh9pTaeETpFnRWXg7GovQ130_assertion evidence source_evidence_literature NP927884.RATeKpt2wS2TiZMH6Zpo4WDqdh9pTaeETpFnRWXg7GovQ130_provenance.
- NP927884.RATeKpt2wS2TiZMH6Zpo4WDqdh9pTaeETpFnRWXg7GovQ130_assertion SIO_000772 21964829 NP927884.RATeKpt2wS2TiZMH6Zpo4WDqdh9pTaeETpFnRWXg7GovQ130_provenance.
- NP927884.RATeKpt2wS2TiZMH6Zpo4WDqdh9pTaeETpFnRWXg7GovQ130_assertion wasDerivedFrom befree-2016 NP927884.RATeKpt2wS2TiZMH6Zpo4WDqdh9pTaeETpFnRWXg7GovQ130_provenance.
- NP927884.RATeKpt2wS2TiZMH6Zpo4WDqdh9pTaeETpFnRWXg7GovQ130_assertion wasGeneratedBy ECO_0000203 NP927884.RATeKpt2wS2TiZMH6Zpo4WDqdh9pTaeETpFnRWXg7GovQ130_provenance.
- befree-2016 importedOn "2016-02-19" NP927884.RATeKpt2wS2TiZMH6Zpo4WDqdh9pTaeETpFnRWXg7GovQ130_provenance.