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- source_evidence_literature type ECO_0000212 NP977548.RAApSyMb-JcQs2uSgNw8Bm6bqgAZW7fAZFgnUxqet6bFA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP977548.RAApSyMb-JcQs2uSgNw8Bm6bqgAZW7fAZFgnUxqet6bFA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP977548.RAApSyMb-JcQs2uSgNw8Bm6bqgAZW7fAZFgnUxqet6bFA130_provenance.
- NP977548.RAApSyMb-JcQs2uSgNw8Bm6bqgAZW7fAZFgnUxqet6bFA130_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." NP977548.RAApSyMb-JcQs2uSgNw8Bm6bqgAZW7fAZFgnUxqet6bFA130_provenance.
- NP977548.RAApSyMb-JcQs2uSgNw8Bm6bqgAZW7fAZFgnUxqet6bFA130_assertion evidence source_evidence_literature NP977548.RAApSyMb-JcQs2uSgNw8Bm6bqgAZW7fAZFgnUxqet6bFA130_provenance.
- NP977548.RAApSyMb-JcQs2uSgNw8Bm6bqgAZW7fAZFgnUxqet6bFA130_assertion SIO_000772 18408718 NP977548.RAApSyMb-JcQs2uSgNw8Bm6bqgAZW7fAZFgnUxqet6bFA130_provenance.
- NP977548.RAApSyMb-JcQs2uSgNw8Bm6bqgAZW7fAZFgnUxqet6bFA130_assertion wasDerivedFrom befree-20150227 NP977548.RAApSyMb-JcQs2uSgNw8Bm6bqgAZW7fAZFgnUxqet6bFA130_provenance.
- NP977548.RAApSyMb-JcQs2uSgNw8Bm6bqgAZW7fAZFgnUxqet6bFA130_assertion wasGeneratedBy ECO_0000203 NP977548.RAApSyMb-JcQs2uSgNw8Bm6bqgAZW7fAZFgnUxqet6bFA130_provenance.
- befree-20150227 importedOn "2015-02-27" NP977548.RAApSyMb-JcQs2uSgNw8Bm6bqgAZW7fAZFgnUxqet6bFA130_provenance.