Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP470863.RA_GGNo9acs2Hgbd9zX2mJ40jTiXG4WLjemmnxySz0dss130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP470863.RA_GGNo9acs2Hgbd9zX2mJ40jTiXG4WLjemmnxySz0dss130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP470863.RA_GGNo9acs2Hgbd9zX2mJ40jTiXG4WLjemmnxySz0dss130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP470863.RA_GGNo9acs2Hgbd9zX2mJ40jTiXG4WLjemmnxySz0dss130_provenance.
- NP470863.RA_GGNo9acs2Hgbd9zX2mJ40jTiXG4WLjemmnxySz0dss130_assertion description "[These data provide the first evidence that the ER-retention of mutant FKRP may play a role in the pathogenesis of CMD and potentially explain why the allelic disorder LGMD2I is milder, because the mutated protein is able to reach the Golgi apparatus.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP470863.RA_GGNo9acs2Hgbd9zX2mJ40jTiXG4WLjemmnxySz0dss130_provenance.
- NP470863.RA_GGNo9acs2Hgbd9zX2mJ40jTiXG4WLjemmnxySz0dss130_assertion evidence source_evidence_literature NP470863.RA_GGNo9acs2Hgbd9zX2mJ40jTiXG4WLjemmnxySz0dss130_provenance.
- NP470863.RA_GGNo9acs2Hgbd9zX2mJ40jTiXG4WLjemmnxySz0dss130_assertion SIO_000772 15574464 NP470863.RA_GGNo9acs2Hgbd9zX2mJ40jTiXG4WLjemmnxySz0dss130_provenance.
- NP470863.RA_GGNo9acs2Hgbd9zX2mJ40jTiXG4WLjemmnxySz0dss130_assertion wasDerivedFrom befree-2016 NP470863.RA_GGNo9acs2Hgbd9zX2mJ40jTiXG4WLjemmnxySz0dss130_provenance.
- NP470863.RA_GGNo9acs2Hgbd9zX2mJ40jTiXG4WLjemmnxySz0dss130_assertion wasGeneratedBy ECO_0000203 NP470863.RA_GGNo9acs2Hgbd9zX2mJ40jTiXG4WLjemmnxySz0dss130_provenance.
- befree-2016 importedOn "2016-02-19" NP470863.RA_GGNo9acs2Hgbd9zX2mJ40jTiXG4WLjemmnxySz0dss130_provenance.