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- source_evidence_literature type ECO_0000212 NP567313.RA5OGXoc9ZGMORlu-ajQ_zMyj9cSravzO0AeqIy0823jM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP567313.RA5OGXoc9ZGMORlu-ajQ_zMyj9cSravzO0AeqIy0823jM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP567313.RA5OGXoc9ZGMORlu-ajQ_zMyj9cSravzO0AeqIy0823jM130_provenance.
- NP567313.RA5OGXoc9ZGMORlu-ajQ_zMyj9cSravzO0AeqIy0823jM130_assertion description "[Germline loss-of-function (LOF) JAK3 and MPL mutations cause severe combined immunodeficiency and congenital amegakaryocytic thrombocytopenia, respectively.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP567313.RA5OGXoc9ZGMORlu-ajQ_zMyj9cSravzO0AeqIy0823jM130_provenance.
- NP567313.RA5OGXoc9ZGMORlu-ajQ_zMyj9cSravzO0AeqIy0823jM130_assertion evidence source_evidence_literature NP567313.RA5OGXoc9ZGMORlu-ajQ_zMyj9cSravzO0AeqIy0823jM130_provenance.
- NP567313.RA5OGXoc9ZGMORlu-ajQ_zMyj9cSravzO0AeqIy0823jM130_assertion SIO_000772 18297515 NP567313.RA5OGXoc9ZGMORlu-ajQ_zMyj9cSravzO0AeqIy0823jM130_provenance.
- NP567313.RA5OGXoc9ZGMORlu-ajQ_zMyj9cSravzO0AeqIy0823jM130_assertion wasDerivedFrom befree-20150227 NP567313.RA5OGXoc9ZGMORlu-ajQ_zMyj9cSravzO0AeqIy0823jM130_provenance.
- NP567313.RA5OGXoc9ZGMORlu-ajQ_zMyj9cSravzO0AeqIy0823jM130_assertion wasGeneratedBy ECO_0000203 NP567313.RA5OGXoc9ZGMORlu-ajQ_zMyj9cSravzO0AeqIy0823jM130_provenance.
- befree-20150227 importedOn "2015-02-27" NP567313.RA5OGXoc9ZGMORlu-ajQ_zMyj9cSravzO0AeqIy0823jM130_provenance.