Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP877530.RASkUx2hu6xGBYdnr-PoqGsAwlk5QCfTGNwzSF6TdEk5A#assertion> ?p ?o ?g. }
Showing items 1 to 5 of
5
with 100 items per page.
- 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." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 10487664 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.