Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP215850.RAdps_tR-jyRtozRNsOZ5PWR1IdJHDT9CpjK-GH7141Qg130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP215850.RAdps_tR-jyRtozRNsOZ5PWR1IdJHDT9CpjK-GH7141Qg130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP215850.RAdps_tR-jyRtozRNsOZ5PWR1IdJHDT9CpjK-GH7141Qg130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP215850.RAdps_tR-jyRtozRNsOZ5PWR1IdJHDT9CpjK-GH7141Qg130_provenance.
- NP215850.RAdps_tR-jyRtozRNsOZ5PWR1IdJHDT9CpjK-GH7141Qg130_assertion description "[Seven novel mutation were identified in ARSB in mucopolysaccharidosis type VI patients undergoing a Clinical trial of enzyme replacement therapy, 3 of these mutations resulted in truncated proteins.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP215850.RAdps_tR-jyRtozRNsOZ5PWR1IdJHDT9CpjK-GH7141Qg130_provenance.
- NP215850.RAdps_tR-jyRtozRNsOZ5PWR1IdJHDT9CpjK-GH7141Qg130_assertion evidence source_evidence_literature NP215850.RAdps_tR-jyRtozRNsOZ5PWR1IdJHDT9CpjK-GH7141Qg130_provenance.
- NP215850.RAdps_tR-jyRtozRNsOZ5PWR1IdJHDT9CpjK-GH7141Qg130_assertion SIO_000772 14974081 NP215850.RAdps_tR-jyRtozRNsOZ5PWR1IdJHDT9CpjK-GH7141Qg130_provenance.
- NP215850.RAdps_tR-jyRtozRNsOZ5PWR1IdJHDT9CpjK-GH7141Qg130_assertion wasDerivedFrom lhgdn-20090331 NP215850.RAdps_tR-jyRtozRNsOZ5PWR1IdJHDT9CpjK-GH7141Qg130_provenance.
- NP215850.RAdps_tR-jyRtozRNsOZ5PWR1IdJHDT9CpjK-GH7141Qg130_assertion wasGeneratedBy ECO_0000203 NP215850.RAdps_tR-jyRtozRNsOZ5PWR1IdJHDT9CpjK-GH7141Qg130_provenance.
- lhgdn-20090331 importedOn "2009-03-31" NP215850.RAdps_tR-jyRtozRNsOZ5PWR1IdJHDT9CpjK-GH7141Qg130_provenance.