Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP263082.RAdP_0VaAAvdaAbXI54XhumW0kiXB-dAd4lbWXINmWe9o130_assertion> ?p ?o ?g. }
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- NP263082.RAdP_0VaAAvdaAbXI54XhumW0kiXB-dAd4lbWXINmWe9o130_assertion type Assertion NP263082.RAdP_0VaAAvdaAbXI54XhumW0kiXB-dAd4lbWXINmWe9o130_head.
- NP263082.RAdP_0VaAAvdaAbXI54XhumW0kiXB-dAd4lbWXINmWe9o130_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." NP263082.RAdP_0VaAAvdaAbXI54XhumW0kiXB-dAd4lbWXINmWe9o130_provenance.
- NP263082.RAdP_0VaAAvdaAbXI54XhumW0kiXB-dAd4lbWXINmWe9o130_assertion evidence source_evidence_literature NP263082.RAdP_0VaAAvdaAbXI54XhumW0kiXB-dAd4lbWXINmWe9o130_provenance.
- NP263082.RAdP_0VaAAvdaAbXI54XhumW0kiXB-dAd4lbWXINmWe9o130_assertion SIO_000772 10487664 NP263082.RAdP_0VaAAvdaAbXI54XhumW0kiXB-dAd4lbWXINmWe9o130_provenance.
- NP263082.RAdP_0VaAAvdaAbXI54XhumW0kiXB-dAd4lbWXINmWe9o130_assertion wasDerivedFrom befree-2016 NP263082.RAdP_0VaAAvdaAbXI54XhumW0kiXB-dAd4lbWXINmWe9o130_provenance.
- NP263082.RAdP_0VaAAvdaAbXI54XhumW0kiXB-dAd4lbWXINmWe9o130_assertion wasGeneratedBy ECO_0000203 NP263082.RAdP_0VaAAvdaAbXI54XhumW0kiXB-dAd4lbWXINmWe9o130_provenance.