Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP461778.RAe6e38iBblAU0QKwatnBsmeSQIkwsKYZkAZXKzqi4g38130_assertion> ?p ?o ?g. }
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- NP461778.RAe6e38iBblAU0QKwatnBsmeSQIkwsKYZkAZXKzqi4g38130_assertion type Assertion NP461778.RAe6e38iBblAU0QKwatnBsmeSQIkwsKYZkAZXKzqi4g38130_head.
- NP461778.RAe6e38iBblAU0QKwatnBsmeSQIkwsKYZkAZXKzqi4g38130_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." NP461778.RAe6e38iBblAU0QKwatnBsmeSQIkwsKYZkAZXKzqi4g38130_provenance.
- NP461778.RAe6e38iBblAU0QKwatnBsmeSQIkwsKYZkAZXKzqi4g38130_assertion evidence source_evidence_literature NP461778.RAe6e38iBblAU0QKwatnBsmeSQIkwsKYZkAZXKzqi4g38130_provenance.
- NP461778.RAe6e38iBblAU0QKwatnBsmeSQIkwsKYZkAZXKzqi4g38130_assertion SIO_000772 10487664 NP461778.RAe6e38iBblAU0QKwatnBsmeSQIkwsKYZkAZXKzqi4g38130_provenance.
- NP461778.RAe6e38iBblAU0QKwatnBsmeSQIkwsKYZkAZXKzqi4g38130_assertion wasDerivedFrom befree-20140225 NP461778.RAe6e38iBblAU0QKwatnBsmeSQIkwsKYZkAZXKzqi4g38130_provenance.
- NP461778.RAe6e38iBblAU0QKwatnBsmeSQIkwsKYZkAZXKzqi4g38130_assertion wasGeneratedBy ECO_0000203 NP461778.RAe6e38iBblAU0QKwatnBsmeSQIkwsKYZkAZXKzqi4g38130_provenance.