Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP250.RA4CYQfUmyxzJYKWplR7EECgO7z9yt1x_Xzz76IbkY0oQ130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP250.RA4CYQfUmyxzJYKWplR7EECgO7z9yt1x_Xzz76IbkY0oQ130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP250.RA4CYQfUmyxzJYKWplR7EECgO7z9yt1x_Xzz76IbkY0oQ130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP250.RA4CYQfUmyxzJYKWplR7EECgO7z9yt1x_Xzz76IbkY0oQ130_provenance.
- NP250.RA4CYQfUmyxzJYKWplR7EECgO7z9yt1x_Xzz76IbkY0oQ130_assertion description "[A gain-of-glycosylation mutation associated with myoclonus-dystonia syndrome affects trafficking and processing of mouse Iu-sarcoglycan in the late secretory pathway.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP250.RA4CYQfUmyxzJYKWplR7EECgO7z9yt1x_Xzz76IbkY0oQ130_provenance.
- NP250.RA4CYQfUmyxzJYKWplR7EECgO7z9yt1x_Xzz76IbkY0oQ130_assertion evidence source_evidence_curated NP250.RA4CYQfUmyxzJYKWplR7EECgO7z9yt1x_Xzz76IbkY0oQ130_provenance.
- NP250.RA4CYQfUmyxzJYKWplR7EECgO7z9yt1x_Xzz76IbkY0oQ130_assertion SIO_000772 21796726 NP250.RA4CYQfUmyxzJYKWplR7EECgO7z9yt1x_Xzz76IbkY0oQ130_provenance.
- NP250.RA4CYQfUmyxzJYKWplR7EECgO7z9yt1x_Xzz76IbkY0oQ130_assertion wasDerivedFrom uniprot-20150221 NP250.RA4CYQfUmyxzJYKWplR7EECgO7z9yt1x_Xzz76IbkY0oQ130_provenance.
- NP250.RA4CYQfUmyxzJYKWplR7EECgO7z9yt1x_Xzz76IbkY0oQ130_assertion wasGeneratedBy ECO_0000218 NP250.RA4CYQfUmyxzJYKWplR7EECgO7z9yt1x_Xzz76IbkY0oQ130_provenance.
- uniprot-20150221 importedOn "2015-02-21" NP250.RA4CYQfUmyxzJYKWplR7EECgO7z9yt1x_Xzz76IbkY0oQ130_provenance.