Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP6720.RA4X9F_SnkOa3psJMUJLPu6dmQV16WvjKz331U9NX7ruQ130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP6720.RA4X9F_SnkOa3psJMUJLPu6dmQV16WvjKz331U9NX7ruQ130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP6720.RA4X9F_SnkOa3psJMUJLPu6dmQV16WvjKz331U9NX7ruQ130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP6720.RA4X9F_SnkOa3psJMUJLPu6dmQV16WvjKz331U9NX7ruQ130_provenance.
- NP6720.RA4X9F_SnkOa3psJMUJLPu6dmQV16WvjKz331U9NX7ruQ130_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." NP6720.RA4X9F_SnkOa3psJMUJLPu6dmQV16WvjKz331U9NX7ruQ130_provenance.
- NP6720.RA4X9F_SnkOa3psJMUJLPu6dmQV16WvjKz331U9NX7ruQ130_assertion evidence source_evidence_curated NP6720.RA4X9F_SnkOa3psJMUJLPu6dmQV16WvjKz331U9NX7ruQ130_provenance.
- NP6720.RA4X9F_SnkOa3psJMUJLPu6dmQV16WvjKz331U9NX7ruQ130_assertion SIO_000772 21796726 NP6720.RA4X9F_SnkOa3psJMUJLPu6dmQV16WvjKz331U9NX7ruQ130_provenance.
- NP6720.RA4X9F_SnkOa3psJMUJLPu6dmQV16WvjKz331U9NX7ruQ130_assertion wasDerivedFrom uniprot-2016 NP6720.RA4X9F_SnkOa3psJMUJLPu6dmQV16WvjKz331U9NX7ruQ130_provenance.
- NP6720.RA4X9F_SnkOa3psJMUJLPu6dmQV16WvjKz331U9NX7ruQ130_assertion wasGeneratedBy ECO_0000218 NP6720.RA4X9F_SnkOa3psJMUJLPu6dmQV16WvjKz331U9NX7ruQ130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP6720.RA4X9F_SnkOa3psJMUJLPu6dmQV16WvjKz331U9NX7ruQ130_provenance.