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- source_evidence_literature type ECO_0000212 NP846805.RAziR3hdXeBT3IYK66aJpjd9l_FHLsJmZi136jxSukY7M130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP846805.RAziR3hdXeBT3IYK66aJpjd9l_FHLsJmZi136jxSukY7M130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP846805.RAziR3hdXeBT3IYK66aJpjd9l_FHLsJmZi136jxSukY7M130_provenance.
- NP846805.RAziR3hdXeBT3IYK66aJpjd9l_FHLsJmZi136jxSukY7M130_assertion description "[We report two sibs with trisomy for the region 2p25.1--> pter and monosomy for the region 12p13.31--> pter, due to adjacent-1 segregation of a maternal balanced reciprocal translocation, 46,XX,t(2;12)(p25.1;p13.31).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP846805.RAziR3hdXeBT3IYK66aJpjd9l_FHLsJmZi136jxSukY7M130_provenance.
- NP846805.RAziR3hdXeBT3IYK66aJpjd9l_FHLsJmZi136jxSukY7M130_assertion evidence source_evidence_literature NP846805.RAziR3hdXeBT3IYK66aJpjd9l_FHLsJmZi136jxSukY7M130_provenance.
- NP846805.RAziR3hdXeBT3IYK66aJpjd9l_FHLsJmZi136jxSukY7M130_assertion SIO_000772 10852377 NP846805.RAziR3hdXeBT3IYK66aJpjd9l_FHLsJmZi136jxSukY7M130_provenance.
- NP846805.RAziR3hdXeBT3IYK66aJpjd9l_FHLsJmZi136jxSukY7M130_assertion wasDerivedFrom befree-20140225 NP846805.RAziR3hdXeBT3IYK66aJpjd9l_FHLsJmZi136jxSukY7M130_provenance.
- NP846805.RAziR3hdXeBT3IYK66aJpjd9l_FHLsJmZi136jxSukY7M130_assertion wasGeneratedBy ECO_0000203 NP846805.RAziR3hdXeBT3IYK66aJpjd9l_FHLsJmZi136jxSukY7M130_provenance.
- befree-20140225 importedOn "2014-02-25" NP846805.RAziR3hdXeBT3IYK66aJpjd9l_FHLsJmZi136jxSukY7M130_provenance.