Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP263081.RAdHp3TjTg4wPYlygC_3VVx7h-QN3VKgmkXqqxyxP_HXY130_assertion> ?p ?o ?g. }
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- NP263081.RAdHp3TjTg4wPYlygC_3VVx7h-QN3VKgmkXqqxyxP_HXY130_assertion type Assertion NP263081.RAdHp3TjTg4wPYlygC_3VVx7h-QN3VKgmkXqqxyxP_HXY130_head.
- NP263081.RAdHp3TjTg4wPYlygC_3VVx7h-QN3VKgmkXqqxyxP_HXY130_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." NP263081.RAdHp3TjTg4wPYlygC_3VVx7h-QN3VKgmkXqqxyxP_HXY130_provenance.
- NP263081.RAdHp3TjTg4wPYlygC_3VVx7h-QN3VKgmkXqqxyxP_HXY130_assertion evidence source_evidence_literature NP263081.RAdHp3TjTg4wPYlygC_3VVx7h-QN3VKgmkXqqxyxP_HXY130_provenance.
- NP263081.RAdHp3TjTg4wPYlygC_3VVx7h-QN3VKgmkXqqxyxP_HXY130_assertion SIO_000772 10487664 NP263081.RAdHp3TjTg4wPYlygC_3VVx7h-QN3VKgmkXqqxyxP_HXY130_provenance.
- NP263081.RAdHp3TjTg4wPYlygC_3VVx7h-QN3VKgmkXqqxyxP_HXY130_assertion wasDerivedFrom befree-2016 NP263081.RAdHp3TjTg4wPYlygC_3VVx7h-QN3VKgmkXqqxyxP_HXY130_provenance.
- NP263081.RAdHp3TjTg4wPYlygC_3VVx7h-QN3VKgmkXqqxyxP_HXY130_assertion wasGeneratedBy ECO_0000203 NP263081.RAdHp3TjTg4wPYlygC_3VVx7h-QN3VKgmkXqqxyxP_HXY130_provenance.