Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP152738.RAkUAd152P3xjHMttUBE4TKxj6jt54ghePYkKy17m33fM130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP152738.RAkUAd152P3xjHMttUBE4TKxj6jt54ghePYkKy17m33fM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP152738.RAkUAd152P3xjHMttUBE4TKxj6jt54ghePYkKy17m33fM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP152738.RAkUAd152P3xjHMttUBE4TKxj6jt54ghePYkKy17m33fM130_provenance.
- NP152738.RAkUAd152P3xjHMttUBE4TKxj6jt54ghePYkKy17m33fM130_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." NP152738.RAkUAd152P3xjHMttUBE4TKxj6jt54ghePYkKy17m33fM130_provenance.
- NP152738.RAkUAd152P3xjHMttUBE4TKxj6jt54ghePYkKy17m33fM130_assertion evidence source_evidence_literature NP152738.RAkUAd152P3xjHMttUBE4TKxj6jt54ghePYkKy17m33fM130_provenance.
- NP152738.RAkUAd152P3xjHMttUBE4TKxj6jt54ghePYkKy17m33fM130_assertion SIO_000772 14974081 NP152738.RAkUAd152P3xjHMttUBE4TKxj6jt54ghePYkKy17m33fM130_provenance.
- NP152738.RAkUAd152P3xjHMttUBE4TKxj6jt54ghePYkKy17m33fM130_assertion wasDerivedFrom lhgdn-20090331 NP152738.RAkUAd152P3xjHMttUBE4TKxj6jt54ghePYkKy17m33fM130_provenance.
- NP152738.RAkUAd152P3xjHMttUBE4TKxj6jt54ghePYkKy17m33fM130_assertion wasGeneratedBy ECO_0000203 NP152738.RAkUAd152P3xjHMttUBE4TKxj6jt54ghePYkKy17m33fM130_provenance.
- lhgdn-20090331 importedOn "2009-03-31" NP152738.RAkUAd152P3xjHMttUBE4TKxj6jt54ghePYkKy17m33fM130_provenance.