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- source_evidence_literature type ECO_0000212 NP434313.RA7ob00g8Uf2Xk7x_OkQaGSP-H1tl4xa2iWicIWgJJrOo130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP434313.RA7ob00g8Uf2Xk7x_OkQaGSP-H1tl4xa2iWicIWgJJrOo130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP434313.RA7ob00g8Uf2Xk7x_OkQaGSP-H1tl4xa2iWicIWgJJrOo130_provenance.
- NP434313.RA7ob00g8Uf2Xk7x_OkQaGSP-H1tl4xa2iWicIWgJJrOo130_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." NP434313.RA7ob00g8Uf2Xk7x_OkQaGSP-H1tl4xa2iWicIWgJJrOo130_provenance.
- NP434313.RA7ob00g8Uf2Xk7x_OkQaGSP-H1tl4xa2iWicIWgJJrOo130_assertion evidence source_evidence_literature NP434313.RA7ob00g8Uf2Xk7x_OkQaGSP-H1tl4xa2iWicIWgJJrOo130_provenance.
- NP434313.RA7ob00g8Uf2Xk7x_OkQaGSP-H1tl4xa2iWicIWgJJrOo130_assertion SIO_000772 19088064 NP434313.RA7ob00g8Uf2Xk7x_OkQaGSP-H1tl4xa2iWicIWgJJrOo130_provenance.
- NP434313.RA7ob00g8Uf2Xk7x_OkQaGSP-H1tl4xa2iWicIWgJJrOo130_assertion wasDerivedFrom befree-20140225 NP434313.RA7ob00g8Uf2Xk7x_OkQaGSP-H1tl4xa2iWicIWgJJrOo130_provenance.
- NP434313.RA7ob00g8Uf2Xk7x_OkQaGSP-H1tl4xa2iWicIWgJJrOo130_assertion wasGeneratedBy ECO_0000203 NP434313.RA7ob00g8Uf2Xk7x_OkQaGSP-H1tl4xa2iWicIWgJJrOo130_provenance.
- befree-20140225 importedOn "2014-02-25" NP434313.RA7ob00g8Uf2Xk7x_OkQaGSP-H1tl4xa2iWicIWgJJrOo130_provenance.