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- source_evidence_literature type ECO_0000212 NP241545.RAnVbRhtK7X1BV7O3l2v7pwAnvHSWlRdPg8ohBIy0NjFw130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP241545.RAnVbRhtK7X1BV7O3l2v7pwAnvHSWlRdPg8ohBIy0NjFw130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP241545.RAnVbRhtK7X1BV7O3l2v7pwAnvHSWlRdPg8ohBIy0NjFw130_provenance.
- NP241545.RAnVbRhtK7X1BV7O3l2v7pwAnvHSWlRdPg8ohBIy0NjFw130_assertion description "[Heterozygous mutations of AIRE were identified in 3 patients: a patient with PBC and a patient with AIH type 1 carried a R257X mutation, and a patient with AIH type 2, diabetes mellitus type 1 (IDDM), thyroid disease, and atrophic gastritis carried a G305S mutation in the first PHD ring finger domain of the AIRE protein.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP241545.RAnVbRhtK7X1BV7O3l2v7pwAnvHSWlRdPg8ohBIy0NjFw130_provenance.
- NP241545.RAnVbRhtK7X1BV7O3l2v7pwAnvHSWlRdPg8ohBIy0NjFw130_assertion evidence source_evidence_literature NP241545.RAnVbRhtK7X1BV7O3l2v7pwAnvHSWlRdPg8ohBIy0NjFw130_provenance.
- NP241545.RAnVbRhtK7X1BV7O3l2v7pwAnvHSWlRdPg8ohBIy0NjFw130_assertion SIO_000772 11343230 NP241545.RAnVbRhtK7X1BV7O3l2v7pwAnvHSWlRdPg8ohBIy0NjFw130_provenance.
- NP241545.RAnVbRhtK7X1BV7O3l2v7pwAnvHSWlRdPg8ohBIy0NjFw130_assertion wasDerivedFrom befree-20150227 NP241545.RAnVbRhtK7X1BV7O3l2v7pwAnvHSWlRdPg8ohBIy0NjFw130_provenance.
- NP241545.RAnVbRhtK7X1BV7O3l2v7pwAnvHSWlRdPg8ohBIy0NjFw130_assertion wasGeneratedBy ECO_0000203 NP241545.RAnVbRhtK7X1BV7O3l2v7pwAnvHSWlRdPg8ohBIy0NjFw130_provenance.
- befree-20150227 importedOn "2015-02-27" NP241545.RAnVbRhtK7X1BV7O3l2v7pwAnvHSWlRdPg8ohBIy0NjFw130_provenance.