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- source_evidence_literature type ECO_0000212 NP512601.RAAQVMLJLK7p6GinxefN-YjEseVS-mYIqKHKehf9TG_kY130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP512601.RAAQVMLJLK7p6GinxefN-YjEseVS-mYIqKHKehf9TG_kY130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP512601.RAAQVMLJLK7p6GinxefN-YjEseVS-mYIqKHKehf9TG_kY130_provenance.
- NP512601.RAAQVMLJLK7p6GinxefN-YjEseVS-mYIqKHKehf9TG_kY130_assertion description "[Our observations suggest that the usual explanation for the association of late-onset EPP with MPD and MDS is acquired somatic mutation of one FECH allele in bone marrow and show for the first time that the consequent overproduction of protoporphyrin may be severe enough to cause acute liver damage.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP512601.RAAQVMLJLK7p6GinxefN-YjEseVS-mYIqKHKehf9TG_kY130_provenance.
- NP512601.RAAQVMLJLK7p6GinxefN-YjEseVS-mYIqKHKehf9TG_kY130_assertion evidence source_evidence_literature NP512601.RAAQVMLJLK7p6GinxefN-YjEseVS-mYIqKHKehf9TG_kY130_provenance.
- NP512601.RAAQVMLJLK7p6GinxefN-YjEseVS-mYIqKHKehf9TG_kY130_assertion SIO_000772 16150949 NP512601.RAAQVMLJLK7p6GinxefN-YjEseVS-mYIqKHKehf9TG_kY130_provenance.
- NP512601.RAAQVMLJLK7p6GinxefN-YjEseVS-mYIqKHKehf9TG_kY130_assertion wasDerivedFrom befree-2016 NP512601.RAAQVMLJLK7p6GinxefN-YjEseVS-mYIqKHKehf9TG_kY130_provenance.
- NP512601.RAAQVMLJLK7p6GinxefN-YjEseVS-mYIqKHKehf9TG_kY130_assertion wasGeneratedBy ECO_0000203 NP512601.RAAQVMLJLK7p6GinxefN-YjEseVS-mYIqKHKehf9TG_kY130_provenance.
- befree-2016 importedOn "2016-02-19" NP512601.RAAQVMLJLK7p6GinxefN-YjEseVS-mYIqKHKehf9TG_kY130_provenance.