Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP493.RANBCb8HopqNtNyqYVWV3R6OBk42XnTImto5kpoBzdEzc130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP493.RANBCb8HopqNtNyqYVWV3R6OBk42XnTImto5kpoBzdEzc130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP493.RANBCb8HopqNtNyqYVWV3R6OBk42XnTImto5kpoBzdEzc130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP493.RANBCb8HopqNtNyqYVWV3R6OBk42XnTImto5kpoBzdEzc130_provenance.
- NP493.RANBCb8HopqNtNyqYVWV3R6OBk42XnTImto5kpoBzdEzc130_assertion description "[Further sequence analysis of the ARSA gene performed on DNA samples of Polish MLD patients with unidentified alleles revealed eight rare mutations on 10 alleles: p.R390W, p.E382K, p.R390Q, p.R288C, p.H397Y, p.F247S, p.D335V and g.561_562insC, responsible together for 12% of the examined alleles.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP493.RANBCb8HopqNtNyqYVWV3R6OBk42XnTImto5kpoBzdEzc130_provenance.
- NP493.RANBCb8HopqNtNyqYVWV3R6OBk42XnTImto5kpoBzdEzc130_assertion evidence source_evidence_curated NP493.RANBCb8HopqNtNyqYVWV3R6OBk42XnTImto5kpoBzdEzc130_provenance.
- NP493.RANBCb8HopqNtNyqYVWV3R6OBk42XnTImto5kpoBzdEzc130_assertion SIO_000772 20339381 NP493.RANBCb8HopqNtNyqYVWV3R6OBk42XnTImto5kpoBzdEzc130_provenance.
- NP493.RANBCb8HopqNtNyqYVWV3R6OBk42XnTImto5kpoBzdEzc130_assertion wasDerivedFrom uniprot-20130724 NP493.RANBCb8HopqNtNyqYVWV3R6OBk42XnTImto5kpoBzdEzc130_provenance.
- NP493.RANBCb8HopqNtNyqYVWV3R6OBk42XnTImto5kpoBzdEzc130_assertion wasGeneratedBy ECO_0000218 NP493.RANBCb8HopqNtNyqYVWV3R6OBk42XnTImto5kpoBzdEzc130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP493.RANBCb8HopqNtNyqYVWV3R6OBk42XnTImto5kpoBzdEzc130_provenance.