Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP641672.RA-fMTM1jK7rTDarGRv0HSAFu3GRryWFOuP4OSjf7VqmI130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP641672.RA-fMTM1jK7rTDarGRv0HSAFu3GRryWFOuP4OSjf7VqmI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP641672.RA-fMTM1jK7rTDarGRv0HSAFu3GRryWFOuP4OSjf7VqmI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP641672.RA-fMTM1jK7rTDarGRv0HSAFu3GRryWFOuP4OSjf7VqmI130_provenance.
- NP641672.RA-fMTM1jK7rTDarGRv0HSAFu3GRryWFOuP4OSjf7VqmI130_assertion description "[We report here a novel splice site mutation in intron 4 of the gene for N-acetylgalactosamine-6-sulfate sulfatase (GALNS) in an Afghanistan girl with severe mucopolysaccharidosis IVA (classical Morquio disease).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP641672.RA-fMTM1jK7rTDarGRv0HSAFu3GRryWFOuP4OSjf7VqmI130_provenance.
- NP641672.RA-fMTM1jK7rTDarGRv0HSAFu3GRryWFOuP4OSjf7VqmI130_assertion evidence source_evidence_literature NP641672.RA-fMTM1jK7rTDarGRv0HSAFu3GRryWFOuP4OSjf7VqmI130_provenance.
- NP641672.RA-fMTM1jK7rTDarGRv0HSAFu3GRryWFOuP4OSjf7VqmI130_assertion SIO_000772 9290256 NP641672.RA-fMTM1jK7rTDarGRv0HSAFu3GRryWFOuP4OSjf7VqmI130_provenance.
- NP641672.RA-fMTM1jK7rTDarGRv0HSAFu3GRryWFOuP4OSjf7VqmI130_assertion wasDerivedFrom befree-20140225 NP641672.RA-fMTM1jK7rTDarGRv0HSAFu3GRryWFOuP4OSjf7VqmI130_provenance.
- NP641672.RA-fMTM1jK7rTDarGRv0HSAFu3GRryWFOuP4OSjf7VqmI130_assertion wasGeneratedBy ECO_0000203 NP641672.RA-fMTM1jK7rTDarGRv0HSAFu3GRryWFOuP4OSjf7VqmI130_provenance.
- befree-20140225 importedOn "2014-02-25" NP641672.RA-fMTM1jK7rTDarGRv0HSAFu3GRryWFOuP4OSjf7VqmI130_provenance.