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- source_evidence_literature type ECO_0000212 NP437062.RAMb0EuySYLidLu8EzU8Zc_I73LTMyThIdU2l5iGjQxbk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP437062.RAMb0EuySYLidLu8EzU8Zc_I73LTMyThIdU2l5iGjQxbk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP437062.RAMb0EuySYLidLu8EzU8Zc_I73LTMyThIdU2l5iGjQxbk130_provenance.
- befree-20150227 importedOn "2015-02-27" NP437062.RAMb0EuySYLidLu8EzU8Zc_I73LTMyThIdU2l5iGjQxbk130_provenance.
- NP437062.RAMb0EuySYLidLu8EzU8Zc_I73LTMyThIdU2l5iGjQxbk130_assertion wasGeneratedBy ECO_0000203 NP437062.RAMb0EuySYLidLu8EzU8Zc_I73LTMyThIdU2l5iGjQxbk130_provenance.
- NP437062.RAMb0EuySYLidLu8EzU8Zc_I73LTMyThIdU2l5iGjQxbk130_assertion wasDerivedFrom befree-20150227 NP437062.RAMb0EuySYLidLu8EzU8Zc_I73LTMyThIdU2l5iGjQxbk130_provenance.
- NP437062.RAMb0EuySYLidLu8EzU8Zc_I73LTMyThIdU2l5iGjQxbk130_assertion SIO_000772 8913726 NP437062.RAMb0EuySYLidLu8EzU8Zc_I73LTMyThIdU2l5iGjQxbk130_provenance.
- NP437062.RAMb0EuySYLidLu8EzU8Zc_I73LTMyThIdU2l5iGjQxbk130_assertion evidence source_evidence_literature NP437062.RAMb0EuySYLidLu8EzU8Zc_I73LTMyThIdU2l5iGjQxbk130_provenance.
- NP437062.RAMb0EuySYLidLu8EzU8Zc_I73LTMyThIdU2l5iGjQxbk130_assertion description "[The review of eight similar, previously reported cases and the clinical, cytogenetic, and molecular studies performed in our patients led us to make the following observations: (I) CT8M predisposes to neoplasms, preferentially to myelo- or lymphoproliferative diseases; (2) a gene dosage effect for glutathione reductase in red blood cells was seen in two of our patients; (3) the wide phenotypic variation of CT8M was confirmed: trisomy 8 in neoplastic cells of phenotypically near-normal cases may be misinterpreted as acquired; and (4) molecular studies suggested a postzygotic origin of the trisomy in our three cases, with the supernumerary chromosome being of paternal origin in one case and of maternal origin in the other two.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP437062.RAMb0EuySYLidLu8EzU8Zc_I73LTMyThIdU2l5iGjQxbk130_provenance.