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- source_evidence_literature type ECO_0000212 NP682083.RAkGDZZ2wIJXr-JBt1Xth98F6hpoc7jNHE8h7ETAOlCaM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP682083.RAkGDZZ2wIJXr-JBt1Xth98F6hpoc7jNHE8h7ETAOlCaM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP682083.RAkGDZZ2wIJXr-JBt1Xth98F6hpoc7jNHE8h7ETAOlCaM130_provenance.
- NP682083.RAkGDZZ2wIJXr-JBt1Xth98F6hpoc7jNHE8h7ETAOlCaM130_assertion description "[Since even small increases in enzyme activity can dramatically influence the clinical phenotype of MPS VI, our study suggests that pharmacological read-through may be combined with ERT potentially increasing therapeutic efficacy in those patients bearing nonsense ARSB mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP682083.RAkGDZZ2wIJXr-JBt1Xth98F6hpoc7jNHE8h7ETAOlCaM130_provenance.
- NP682083.RAkGDZZ2wIJXr-JBt1Xth98F6hpoc7jNHE8h7ETAOlCaM130_assertion evidence source_evidence_literature NP682083.RAkGDZZ2wIJXr-JBt1Xth98F6hpoc7jNHE8h7ETAOlCaM130_provenance.
- NP682083.RAkGDZZ2wIJXr-JBt1Xth98F6hpoc7jNHE8h7ETAOlCaM130_assertion SIO_000772 22971959 NP682083.RAkGDZZ2wIJXr-JBt1Xth98F6hpoc7jNHE8h7ETAOlCaM130_provenance.
- NP682083.RAkGDZZ2wIJXr-JBt1Xth98F6hpoc7jNHE8h7ETAOlCaM130_assertion wasDerivedFrom befree-20140225 NP682083.RAkGDZZ2wIJXr-JBt1Xth98F6hpoc7jNHE8h7ETAOlCaM130_provenance.
- NP682083.RAkGDZZ2wIJXr-JBt1Xth98F6hpoc7jNHE8h7ETAOlCaM130_assertion wasGeneratedBy ECO_0000203 NP682083.RAkGDZZ2wIJXr-JBt1Xth98F6hpoc7jNHE8h7ETAOlCaM130_provenance.
- befree-20140225 importedOn "2014-02-25" NP682083.RAkGDZZ2wIJXr-JBt1Xth98F6hpoc7jNHE8h7ETAOlCaM130_provenance.