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- source_evidence_literature type ECO_0000212 NP1346504.RAUjLWBsm9ze0KVS-21hU7RNtfGxcNqcDH0F23WCSiBuA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1346504.RAUjLWBsm9ze0KVS-21hU7RNtfGxcNqcDH0F23WCSiBuA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1346504.RAUjLWBsm9ze0KVS-21hU7RNtfGxcNqcDH0F23WCSiBuA130_provenance.
- NP1346504.RAUjLWBsm9ze0KVS-21hU7RNtfGxcNqcDH0F23WCSiBuA130_assertion description "[A mutation in the PTH/PTHrP receptor is, however, the most likely cause of Jansen-type metaphyseal chondrodysplasia, a rare form of short-limbed dwarfism which is associated with severe hypercalcemia despite normal or low levels of circulating PTH and PTHrP.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1346504.RAUjLWBsm9ze0KVS-21hU7RNtfGxcNqcDH0F23WCSiBuA130_provenance.
- NP1346504.RAUjLWBsm9ze0KVS-21hU7RNtfGxcNqcDH0F23WCSiBuA130_assertion evidence source_evidence_literature NP1346504.RAUjLWBsm9ze0KVS-21hU7RNtfGxcNqcDH0F23WCSiBuA130_provenance.
- NP1346504.RAUjLWBsm9ze0KVS-21hU7RNtfGxcNqcDH0F23WCSiBuA130_assertion SIO_000772 8579896 NP1346504.RAUjLWBsm9ze0KVS-21hU7RNtfGxcNqcDH0F23WCSiBuA130_provenance.
- NP1346504.RAUjLWBsm9ze0KVS-21hU7RNtfGxcNqcDH0F23WCSiBuA130_assertion wasDerivedFrom befree-2016 NP1346504.RAUjLWBsm9ze0KVS-21hU7RNtfGxcNqcDH0F23WCSiBuA130_provenance.
- NP1346504.RAUjLWBsm9ze0KVS-21hU7RNtfGxcNqcDH0F23WCSiBuA130_assertion wasGeneratedBy ECO_0000203 NP1346504.RAUjLWBsm9ze0KVS-21hU7RNtfGxcNqcDH0F23WCSiBuA130_provenance.
- befree-2016 importedOn "2016-02-19" NP1346504.RAUjLWBsm9ze0KVS-21hU7RNtfGxcNqcDH0F23WCSiBuA130_provenance.