Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP1220.RAFLtIEVDFriGmxt3cf-Fk4P-oU1UIZ061fHQnF0f1jZI130_assertion> ?p ?o ?g. }
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- NP1220.RAFLtIEVDFriGmxt3cf-Fk4P-oU1UIZ061fHQnF0f1jZI130_assertion type Assertion NP1220.RAFLtIEVDFriGmxt3cf-Fk4P-oU1UIZ061fHQnF0f1jZI130_head.
- NP1220.RAFLtIEVDFriGmxt3cf-Fk4P-oU1UIZ061fHQnF0f1jZI130_assertion description "[Phenotypic divergence is exemplified by different CLN8 mutations giving rise to two very different diseases, the mild CLN8 disease, EPMR (progressive epilepsy with mental retardation), and the more severe CLN8 disease, late infantile variant.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1220.RAFLtIEVDFriGmxt3cf-Fk4P-oU1UIZ061fHQnF0f1jZI130_provenance.
- NP1220.RAFLtIEVDFriGmxt3cf-Fk4P-oU1UIZ061fHQnF0f1jZI130_assertion evidence source_evidence_curated NP1220.RAFLtIEVDFriGmxt3cf-Fk4P-oU1UIZ061fHQnF0f1jZI130_provenance.
- NP1220.RAFLtIEVDFriGmxt3cf-Fk4P-oU1UIZ061fHQnF0f1jZI130_assertion SIO_000772 21990111 NP1220.RAFLtIEVDFriGmxt3cf-Fk4P-oU1UIZ061fHQnF0f1jZI130_provenance.
- NP1220.RAFLtIEVDFriGmxt3cf-Fk4P-oU1UIZ061fHQnF0f1jZI130_assertion wasDerivedFrom uniprot-20130724 NP1220.RAFLtIEVDFriGmxt3cf-Fk4P-oU1UIZ061fHQnF0f1jZI130_provenance.
- NP1220.RAFLtIEVDFriGmxt3cf-Fk4P-oU1UIZ061fHQnF0f1jZI130_assertion wasGeneratedBy ECO_0000218 NP1220.RAFLtIEVDFriGmxt3cf-Fk4P-oU1UIZ061fHQnF0f1jZI130_provenance.