Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP206338.RA5N42of4X5OZ-9EWE4sVzk2zD33eL3r97i6CAGhlj2Q8130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP206338.RA5N42of4X5OZ-9EWE4sVzk2zD33eL3r97i6CAGhlj2Q8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP206338.RA5N42of4X5OZ-9EWE4sVzk2zD33eL3r97i6CAGhlj2Q8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP206338.RA5N42of4X5OZ-9EWE4sVzk2zD33eL3r97i6CAGhlj2Q8130_provenance.
- NP206338.RA5N42of4X5OZ-9EWE4sVzk2zD33eL3r97i6CAGhlj2Q8130_assertion description "[Recent studies have demonstrated that hypomorphic mutations in signal transducer and activator of transcription 3 result in the classical multisystem form of HIES, whereas a null mutation in tyrosine kinase 2 causes the autosomal recessive form of HIES that is associated with viral and mycobacterial infections.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP206338.RA5N42of4X5OZ-9EWE4sVzk2zD33eL3r97i6CAGhlj2Q8130_provenance.
- NP206338.RA5N42of4X5OZ-9EWE4sVzk2zD33eL3r97i6CAGhlj2Q8130_assertion evidence source_evidence_literature NP206338.RA5N42of4X5OZ-9EWE4sVzk2zD33eL3r97i6CAGhlj2Q8130_provenance.
- NP206338.RA5N42of4X5OZ-9EWE4sVzk2zD33eL3r97i6CAGhlj2Q8130_assertion SIO_000772 19088064 NP206338.RA5N42of4X5OZ-9EWE4sVzk2zD33eL3r97i6CAGhlj2Q8130_provenance.
- NP206338.RA5N42of4X5OZ-9EWE4sVzk2zD33eL3r97i6CAGhlj2Q8130_assertion wasDerivedFrom befree-20140225 NP206338.RA5N42of4X5OZ-9EWE4sVzk2zD33eL3r97i6CAGhlj2Q8130_provenance.
- NP206338.RA5N42of4X5OZ-9EWE4sVzk2zD33eL3r97i6CAGhlj2Q8130_assertion wasGeneratedBy ECO_0000203 NP206338.RA5N42of4X5OZ-9EWE4sVzk2zD33eL3r97i6CAGhlj2Q8130_provenance.
- befree-20140225 importedOn "2014-02-25" NP206338.RA5N42of4X5OZ-9EWE4sVzk2zD33eL3r97i6CAGhlj2Q8130_provenance.