Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP658777.RANiwsLb5zi75aeLaM6a9uRviKbaBfP06eFk3vtenkUj4130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP658777.RANiwsLb5zi75aeLaM6a9uRviKbaBfP06eFk3vtenkUj4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP658777.RANiwsLb5zi75aeLaM6a9uRviKbaBfP06eFk3vtenkUj4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP658777.RANiwsLb5zi75aeLaM6a9uRviKbaBfP06eFk3vtenkUj4130_provenance.
- NP658777.RANiwsLb5zi75aeLaM6a9uRviKbaBfP06eFk3vtenkUj4130_assertion description "[Two heterozygous PTH/PTH-related peptide (PTHrP) receptor missense mutations were previously identified in patients with Jansen's metaphyseal chondrodysplasia (JMC), a rare form of short limb dwarfism associated with hypercalcemia and normal or undetectable levels of PTH and PTHrP.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP658777.RANiwsLb5zi75aeLaM6a9uRviKbaBfP06eFk3vtenkUj4130_provenance.
- NP658777.RANiwsLb5zi75aeLaM6a9uRviKbaBfP06eFk3vtenkUj4130_assertion evidence source_evidence_literature NP658777.RANiwsLb5zi75aeLaM6a9uRviKbaBfP06eFk3vtenkUj4130_provenance.
- NP658777.RANiwsLb5zi75aeLaM6a9uRviKbaBfP06eFk3vtenkUj4130_assertion SIO_000772 10487664 NP658777.RANiwsLb5zi75aeLaM6a9uRviKbaBfP06eFk3vtenkUj4130_provenance.
- NP658777.RANiwsLb5zi75aeLaM6a9uRviKbaBfP06eFk3vtenkUj4130_assertion wasDerivedFrom befree-20150227 NP658777.RANiwsLb5zi75aeLaM6a9uRviKbaBfP06eFk3vtenkUj4130_provenance.
- NP658777.RANiwsLb5zi75aeLaM6a9uRviKbaBfP06eFk3vtenkUj4130_assertion wasGeneratedBy ECO_0000203 NP658777.RANiwsLb5zi75aeLaM6a9uRviKbaBfP06eFk3vtenkUj4130_provenance.
- befree-20150227 importedOn "2015-02-27" NP658777.RANiwsLb5zi75aeLaM6a9uRviKbaBfP06eFk3vtenkUj4130_provenance.