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- source_evidence_literature type ECO_0000212 NP763194.RAw-2s7xyFeZcOtrqFW06fZR65qk51y4mZnjvD158byW0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP763194.RAw-2s7xyFeZcOtrqFW06fZR65qk51y4mZnjvD158byW0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP763194.RAw-2s7xyFeZcOtrqFW06fZR65qk51y4mZnjvD158byW0130_provenance.
- NP763194.RAw-2s7xyFeZcOtrqFW06fZR65qk51y4mZnjvD158byW0130_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." NP763194.RAw-2s7xyFeZcOtrqFW06fZR65qk51y4mZnjvD158byW0130_provenance.
- NP763194.RAw-2s7xyFeZcOtrqFW06fZR65qk51y4mZnjvD158byW0130_assertion evidence source_evidence_literature NP763194.RAw-2s7xyFeZcOtrqFW06fZR65qk51y4mZnjvD158byW0130_provenance.
- NP763194.RAw-2s7xyFeZcOtrqFW06fZR65qk51y4mZnjvD158byW0130_assertion SIO_000772 19088064 NP763194.RAw-2s7xyFeZcOtrqFW06fZR65qk51y4mZnjvD158byW0130_provenance.
- NP763194.RAw-2s7xyFeZcOtrqFW06fZR65qk51y4mZnjvD158byW0130_assertion wasDerivedFrom befree-20150227 NP763194.RAw-2s7xyFeZcOtrqFW06fZR65qk51y4mZnjvD158byW0130_provenance.
- NP763194.RAw-2s7xyFeZcOtrqFW06fZR65qk51y4mZnjvD158byW0130_assertion wasGeneratedBy ECO_0000203 NP763194.RAw-2s7xyFeZcOtrqFW06fZR65qk51y4mZnjvD158byW0130_provenance.
- befree-20150227 importedOn "2015-02-27" NP763194.RAw-2s7xyFeZcOtrqFW06fZR65qk51y4mZnjvD158byW0130_provenance.