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- source_evidence_literature type ECO_0000212 NP492917.RAvb4k09ol3ENfryou0OtjTUDwelNHFthnEOzofDfUmmM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP492917.RAvb4k09ol3ENfryou0OtjTUDwelNHFthnEOzofDfUmmM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP492917.RAvb4k09ol3ENfryou0OtjTUDwelNHFthnEOzofDfUmmM130_provenance.
- NP492917.RAvb4k09ol3ENfryou0OtjTUDwelNHFthnEOzofDfUmmM130_assertion description "[Here, we show that iron deficiency anemia refractory to oral iron therapy can be caused by germline mutations in TMPRSS6, which encodes a type II transmembrane serine protease produced by the liver that regulates the expression of the systemic iron regulatory hormone hepcidin.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP492917.RAvb4k09ol3ENfryou0OtjTUDwelNHFthnEOzofDfUmmM130_provenance.
- NP492917.RAvb4k09ol3ENfryou0OtjTUDwelNHFthnEOzofDfUmmM130_assertion evidence source_evidence_literature NP492917.RAvb4k09ol3ENfryou0OtjTUDwelNHFthnEOzofDfUmmM130_provenance.
- NP492917.RAvb4k09ol3ENfryou0OtjTUDwelNHFthnEOzofDfUmmM130_assertion SIO_000772 18408718 NP492917.RAvb4k09ol3ENfryou0OtjTUDwelNHFthnEOzofDfUmmM130_provenance.
- NP492917.RAvb4k09ol3ENfryou0OtjTUDwelNHFthnEOzofDfUmmM130_assertion wasDerivedFrom befree-20140225 NP492917.RAvb4k09ol3ENfryou0OtjTUDwelNHFthnEOzofDfUmmM130_provenance.
- NP492917.RAvb4k09ol3ENfryou0OtjTUDwelNHFthnEOzofDfUmmM130_assertion wasGeneratedBy ECO_0000203 NP492917.RAvb4k09ol3ENfryou0OtjTUDwelNHFthnEOzofDfUmmM130_provenance.
- befree-20140225 importedOn "2014-02-25" NP492917.RAvb4k09ol3ENfryou0OtjTUDwelNHFthnEOzofDfUmmM130_provenance.