Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP322185.RAGNdg-WQc22gw0YXk3bo_fGIGPnVPsj7JjMFtMeF26SQ130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP322185.RAGNdg-WQc22gw0YXk3bo_fGIGPnVPsj7JjMFtMeF26SQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP322185.RAGNdg-WQc22gw0YXk3bo_fGIGPnVPsj7JjMFtMeF26SQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP322185.RAGNdg-WQc22gw0YXk3bo_fGIGPnVPsj7JjMFtMeF26SQ130_provenance.
- NP322185.RAGNdg-WQc22gw0YXk3bo_fGIGPnVPsj7JjMFtMeF26SQ130_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." NP322185.RAGNdg-WQc22gw0YXk3bo_fGIGPnVPsj7JjMFtMeF26SQ130_provenance.
- NP322185.RAGNdg-WQc22gw0YXk3bo_fGIGPnVPsj7JjMFtMeF26SQ130_assertion evidence source_evidence_literature NP322185.RAGNdg-WQc22gw0YXk3bo_fGIGPnVPsj7JjMFtMeF26SQ130_provenance.
- NP322185.RAGNdg-WQc22gw0YXk3bo_fGIGPnVPsj7JjMFtMeF26SQ130_assertion SIO_000772 10487664 NP322185.RAGNdg-WQc22gw0YXk3bo_fGIGPnVPsj7JjMFtMeF26SQ130_provenance.
- NP322185.RAGNdg-WQc22gw0YXk3bo_fGIGPnVPsj7JjMFtMeF26SQ130_assertion wasDerivedFrom befree-20140225 NP322185.RAGNdg-WQc22gw0YXk3bo_fGIGPnVPsj7JjMFtMeF26SQ130_provenance.
- NP322185.RAGNdg-WQc22gw0YXk3bo_fGIGPnVPsj7JjMFtMeF26SQ130_assertion wasGeneratedBy ECO_0000203 NP322185.RAGNdg-WQc22gw0YXk3bo_fGIGPnVPsj7JjMFtMeF26SQ130_provenance.
- befree-20140225 importedOn "2014-02-25" NP322185.RAGNdg-WQc22gw0YXk3bo_fGIGPnVPsj7JjMFtMeF26SQ130_provenance.