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- source_evidence_literature type ECO_0000212 NP465865.RA47jk70K5wcdTSCxTfAoKZEZlT3quVZvTezw2UwpKhLE130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP465865.RA47jk70K5wcdTSCxTfAoKZEZlT3quVZvTezw2UwpKhLE130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP465865.RA47jk70K5wcdTSCxTfAoKZEZlT3quVZvTezw2UwpKhLE130_provenance.
- NP465865.RA47jk70K5wcdTSCxTfAoKZEZlT3quVZvTezw2UwpKhLE130_assertion description "[The identification of these three ASB mutations documents the first evidence of molecular heterogeneity in MPS VI and provides an initial basis for genotype/phenotype correlations in this lysosomal storage disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP465865.RA47jk70K5wcdTSCxTfAoKZEZlT3quVZvTezw2UwpKhLE130_provenance.
- NP465865.RA47jk70K5wcdTSCxTfAoKZEZlT3quVZvTezw2UwpKhLE130_assertion evidence source_evidence_literature NP465865.RA47jk70K5wcdTSCxTfAoKZEZlT3quVZvTezw2UwpKhLE130_provenance.
- NP465865.RA47jk70K5wcdTSCxTfAoKZEZlT3quVZvTezw2UwpKhLE130_assertion SIO_000772 1550123 NP465865.RA47jk70K5wcdTSCxTfAoKZEZlT3quVZvTezw2UwpKhLE130_provenance.
- NP465865.RA47jk70K5wcdTSCxTfAoKZEZlT3quVZvTezw2UwpKhLE130_assertion wasDerivedFrom befree-2016 NP465865.RA47jk70K5wcdTSCxTfAoKZEZlT3quVZvTezw2UwpKhLE130_provenance.
- NP465865.RA47jk70K5wcdTSCxTfAoKZEZlT3quVZvTezw2UwpKhLE130_assertion wasGeneratedBy ECO_0000203 NP465865.RA47jk70K5wcdTSCxTfAoKZEZlT3quVZvTezw2UwpKhLE130_provenance.
- befree-2016 importedOn "2016-02-19" NP465865.RA47jk70K5wcdTSCxTfAoKZEZlT3quVZvTezw2UwpKhLE130_provenance.