Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1683.RARq8Djig7gl5QgMBbOAzViLLHdoVNs4-4I1TrM9MhD8Q130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP1683.RARq8Djig7gl5QgMBbOAzViLLHdoVNs4-4I1TrM9MhD8Q130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP1683.RARq8Djig7gl5QgMBbOAzViLLHdoVNs4-4I1TrM9MhD8Q130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP1683.RARq8Djig7gl5QgMBbOAzViLLHdoVNs4-4I1TrM9MhD8Q130_provenance.
- NP1683.RARq8Djig7gl5QgMBbOAzViLLHdoVNs4-4I1TrM9MhD8Q130_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." NP1683.RARq8Djig7gl5QgMBbOAzViLLHdoVNs4-4I1TrM9MhD8Q130_provenance.
- NP1683.RARq8Djig7gl5QgMBbOAzViLLHdoVNs4-4I1TrM9MhD8Q130_assertion evidence source_evidence_curated NP1683.RARq8Djig7gl5QgMBbOAzViLLHdoVNs4-4I1TrM9MhD8Q130_provenance.
- NP1683.RARq8Djig7gl5QgMBbOAzViLLHdoVNs4-4I1TrM9MhD8Q130_assertion SIO_000772 20339381 NP1683.RARq8Djig7gl5QgMBbOAzViLLHdoVNs4-4I1TrM9MhD8Q130_provenance.
- NP1683.RARq8Djig7gl5QgMBbOAzViLLHdoVNs4-4I1TrM9MhD8Q130_assertion wasDerivedFrom uniprot-20150221 NP1683.RARq8Djig7gl5QgMBbOAzViLLHdoVNs4-4I1TrM9MhD8Q130_provenance.
- NP1683.RARq8Djig7gl5QgMBbOAzViLLHdoVNs4-4I1TrM9MhD8Q130_assertion wasGeneratedBy ECO_0000218 NP1683.RARq8Djig7gl5QgMBbOAzViLLHdoVNs4-4I1TrM9MhD8Q130_provenance.
- uniprot-20150221 importedOn "2015-02-21" NP1683.RARq8Djig7gl5QgMBbOAzViLLHdoVNs4-4I1TrM9MhD8Q130_provenance.