Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP5940.RAzYFRe_A0mHx_urKOLk00RiEM69lYiyJGZz24MbdFaew130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP5940.RAzYFRe_A0mHx_urKOLk00RiEM69lYiyJGZz24MbdFaew130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP5940.RAzYFRe_A0mHx_urKOLk00RiEM69lYiyJGZz24MbdFaew130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP5940.RAzYFRe_A0mHx_urKOLk00RiEM69lYiyJGZz24MbdFaew130_provenance.
- NP5940.RAzYFRe_A0mHx_urKOLk00RiEM69lYiyJGZz24MbdFaew130_assertion description "[A gain-of-glycosylation mutation associated with myoclonus-dystonia syndrome affects trafficking and processing of mouse -sarcoglycan in the late secretory pathway.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5940.RAzYFRe_A0mHx_urKOLk00RiEM69lYiyJGZz24MbdFaew130_provenance.
- NP5940.RAzYFRe_A0mHx_urKOLk00RiEM69lYiyJGZz24MbdFaew130_assertion evidence source_evidence_curated NP5940.RAzYFRe_A0mHx_urKOLk00RiEM69lYiyJGZz24MbdFaew130_provenance.
- NP5940.RAzYFRe_A0mHx_urKOLk00RiEM69lYiyJGZz24MbdFaew130_assertion SIO_000772 21796726 NP5940.RAzYFRe_A0mHx_urKOLk00RiEM69lYiyJGZz24MbdFaew130_provenance.
- NP5940.RAzYFRe_A0mHx_urKOLk00RiEM69lYiyJGZz24MbdFaew130_assertion wasDerivedFrom uniprot-20130724 NP5940.RAzYFRe_A0mHx_urKOLk00RiEM69lYiyJGZz24MbdFaew130_provenance.
- NP5940.RAzYFRe_A0mHx_urKOLk00RiEM69lYiyJGZz24MbdFaew130_assertion wasGeneratedBy ECO_0000218 NP5940.RAzYFRe_A0mHx_urKOLk00RiEM69lYiyJGZz24MbdFaew130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP5940.RAzYFRe_A0mHx_urKOLk00RiEM69lYiyJGZz24MbdFaew130_provenance.