Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP263084.RAPBQ_LGJNR8l-WbFBzRs4K1PgDz7pHsNmQR36WI1ll9U130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP263084.RAPBQ_LGJNR8l-WbFBzRs4K1PgDz7pHsNmQR36WI1ll9U130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP263084.RAPBQ_LGJNR8l-WbFBzRs4K1PgDz7pHsNmQR36WI1ll9U130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP263084.RAPBQ_LGJNR8l-WbFBzRs4K1PgDz7pHsNmQR36WI1ll9U130_provenance.
- NP263084.RAPBQ_LGJNR8l-WbFBzRs4K1PgDz7pHsNmQR36WI1ll9U130_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." NP263084.RAPBQ_LGJNR8l-WbFBzRs4K1PgDz7pHsNmQR36WI1ll9U130_provenance.
- NP263084.RAPBQ_LGJNR8l-WbFBzRs4K1PgDz7pHsNmQR36WI1ll9U130_assertion evidence source_evidence_literature NP263084.RAPBQ_LGJNR8l-WbFBzRs4K1PgDz7pHsNmQR36WI1ll9U130_provenance.
- NP263084.RAPBQ_LGJNR8l-WbFBzRs4K1PgDz7pHsNmQR36WI1ll9U130_assertion SIO_000772 10487664 NP263084.RAPBQ_LGJNR8l-WbFBzRs4K1PgDz7pHsNmQR36WI1ll9U130_provenance.
- NP263084.RAPBQ_LGJNR8l-WbFBzRs4K1PgDz7pHsNmQR36WI1ll9U130_assertion wasDerivedFrom befree-2016 NP263084.RAPBQ_LGJNR8l-WbFBzRs4K1PgDz7pHsNmQR36WI1ll9U130_provenance.
- NP263084.RAPBQ_LGJNR8l-WbFBzRs4K1PgDz7pHsNmQR36WI1ll9U130_assertion wasGeneratedBy ECO_0000203 NP263084.RAPBQ_LGJNR8l-WbFBzRs4K1PgDz7pHsNmQR36WI1ll9U130_provenance.
- befree-2016 importedOn "2016-02-19" NP263084.RAPBQ_LGJNR8l-WbFBzRs4K1PgDz7pHsNmQR36WI1ll9U130_provenance.