Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP876050.RA8OCMF0JCdpfBRhqjANQ2k1Of52dCvZZmX7t7s8KMO7E130_assertion> ?p ?o ?g. }
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- NP876050.RA8OCMF0JCdpfBRhqjANQ2k1Of52dCvZZmX7t7s8KMO7E130_assertion type Assertion NP876050.RA8OCMF0JCdpfBRhqjANQ2k1Of52dCvZZmX7t7s8KMO7E130_head.
- NP876050.RA8OCMF0JCdpfBRhqjANQ2k1Of52dCvZZmX7t7s8KMO7E130_assertion wasGeneratedBy ECO_0000203 NP876050.RA8OCMF0JCdpfBRhqjANQ2k1Of52dCvZZmX7t7s8KMO7E130_provenance.
- NP876050.RA8OCMF0JCdpfBRhqjANQ2k1Of52dCvZZmX7t7s8KMO7E130_assertion wasDerivedFrom befree-20150227 NP876050.RA8OCMF0JCdpfBRhqjANQ2k1Of52dCvZZmX7t7s8KMO7E130_provenance.
- NP876050.RA8OCMF0JCdpfBRhqjANQ2k1Of52dCvZZmX7t7s8KMO7E130_assertion SIO_000772 19762329 NP876050.RA8OCMF0JCdpfBRhqjANQ2k1Of52dCvZZmX7t7s8KMO7E130_provenance.
- NP876050.RA8OCMF0JCdpfBRhqjANQ2k1Of52dCvZZmX7t7s8KMO7E130_assertion evidence source_evidence_literature NP876050.RA8OCMF0JCdpfBRhqjANQ2k1Of52dCvZZmX7t7s8KMO7E130_provenance.
- NP876050.RA8OCMF0JCdpfBRhqjANQ2k1Of52dCvZZmX7t7s8KMO7E130_assertion description "[LEMD3 haploinsufficiency and point mutations have been previously associated with osteopoikilosis but radiographs of our patient at the age of 16 years did not reveal any hint for osteopoikilosis lesions.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP876050.RA8OCMF0JCdpfBRhqjANQ2k1Of52dCvZZmX7t7s8KMO7E130_provenance.