Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP111.RAcq1bLFPVhElkjziQ-6yw9TWhYEnilYobXTEMYze6Za8130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP111.RAcq1bLFPVhElkjziQ-6yw9TWhYEnilYobXTEMYze6Za8130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP111.RAcq1bLFPVhElkjziQ-6yw9TWhYEnilYobXTEMYze6Za8130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP111.RAcq1bLFPVhElkjziQ-6yw9TWhYEnilYobXTEMYze6Za8130_provenance.
- uniprot-20150221 importedOn "2015-02-21" NP111.RAcq1bLFPVhElkjziQ-6yw9TWhYEnilYobXTEMYze6Za8130_provenance.
- NP111.RAcq1bLFPVhElkjziQ-6yw9TWhYEnilYobXTEMYze6Za8130_assertion wasGeneratedBy ECO_0000218 NP111.RAcq1bLFPVhElkjziQ-6yw9TWhYEnilYobXTEMYze6Za8130_provenance.
- NP111.RAcq1bLFPVhElkjziQ-6yw9TWhYEnilYobXTEMYze6Za8130_assertion wasDerivedFrom uniprot-20150221 NP111.RAcq1bLFPVhElkjziQ-6yw9TWhYEnilYobXTEMYze6Za8130_provenance.
- NP111.RAcq1bLFPVhElkjziQ-6yw9TWhYEnilYobXTEMYze6Za8130_assertion SIO_000772 10914677 NP111.RAcq1bLFPVhElkjziQ-6yw9TWhYEnilYobXTEMYze6Za8130_provenance.
- NP111.RAcq1bLFPVhElkjziQ-6yw9TWhYEnilYobXTEMYze6Za8130_assertion evidence source_evidence_curated NP111.RAcq1bLFPVhElkjziQ-6yw9TWhYEnilYobXTEMYze6Za8130_provenance.
- NP111.RAcq1bLFPVhElkjziQ-6yw9TWhYEnilYobXTEMYze6Za8130_assertion description "[The mutation of Pro789 to Leu reduces the activity of the fast-twitch skeletal muscle sarco(endo)plasmic reticulum Ca2+ ATPase (SERCA1) and is associated with Brody disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP111.RAcq1bLFPVhElkjziQ-6yw9TWhYEnilYobXTEMYze6Za8130_provenance.