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- source_evidence_literature type ECO_0000212 NP657195.RAyOPtEwslaq7cQX75ulsTbLlZHcd5gGhzcvP3aFkJbA0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP657195.RAyOPtEwslaq7cQX75ulsTbLlZHcd5gGhzcvP3aFkJbA0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP657195.RAyOPtEwslaq7cQX75ulsTbLlZHcd5gGhzcvP3aFkJbA0130_provenance.
- NP657195.RAyOPtEwslaq7cQX75ulsTbLlZHcd5gGhzcvP3aFkJbA0130_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." NP657195.RAyOPtEwslaq7cQX75ulsTbLlZHcd5gGhzcvP3aFkJbA0130_provenance.
- NP657195.RAyOPtEwslaq7cQX75ulsTbLlZHcd5gGhzcvP3aFkJbA0130_assertion evidence source_evidence_literature NP657195.RAyOPtEwslaq7cQX75ulsTbLlZHcd5gGhzcvP3aFkJbA0130_provenance.
- NP657195.RAyOPtEwslaq7cQX75ulsTbLlZHcd5gGhzcvP3aFkJbA0130_assertion SIO_000772 18297515 NP657195.RAyOPtEwslaq7cQX75ulsTbLlZHcd5gGhzcvP3aFkJbA0130_provenance.
- NP657195.RAyOPtEwslaq7cQX75ulsTbLlZHcd5gGhzcvP3aFkJbA0130_assertion wasDerivedFrom befree-2016 NP657195.RAyOPtEwslaq7cQX75ulsTbLlZHcd5gGhzcvP3aFkJbA0130_provenance.
- NP657195.RAyOPtEwslaq7cQX75ulsTbLlZHcd5gGhzcvP3aFkJbA0130_assertion wasGeneratedBy ECO_0000203 NP657195.RAyOPtEwslaq7cQX75ulsTbLlZHcd5gGhzcvP3aFkJbA0130_provenance.
- befree-2016 importedOn "2016-02-19" NP657195.RAyOPtEwslaq7cQX75ulsTbLlZHcd5gGhzcvP3aFkJbA0130_provenance.