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- source_evidence_literature type ECO_0000212 NP872268.RABcnjYdJY-xSgYxPHvufWXeKPY2Iwj7Xj6oNaotCfk7Q130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP872268.RABcnjYdJY-xSgYxPHvufWXeKPY2Iwj7Xj6oNaotCfk7Q130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP872268.RABcnjYdJY-xSgYxPHvufWXeKPY2Iwj7Xj6oNaotCfk7Q130_provenance.
- befree-2016 importedOn "2016-02-19" NP872268.RABcnjYdJY-xSgYxPHvufWXeKPY2Iwj7Xj6oNaotCfk7Q130_provenance.
- NP872268.RABcnjYdJY-xSgYxPHvufWXeKPY2Iwj7Xj6oNaotCfk7Q130_assertion wasGeneratedBy ECO_0000203 NP872268.RABcnjYdJY-xSgYxPHvufWXeKPY2Iwj7Xj6oNaotCfk7Q130_provenance.
- NP872268.RABcnjYdJY-xSgYxPHvufWXeKPY2Iwj7Xj6oNaotCfk7Q130_assertion wasDerivedFrom befree-2016 NP872268.RABcnjYdJY-xSgYxPHvufWXeKPY2Iwj7Xj6oNaotCfk7Q130_provenance.
- NP872268.RABcnjYdJY-xSgYxPHvufWXeKPY2Iwj7Xj6oNaotCfk7Q130_assertion SIO_000772 21319362 NP872268.RABcnjYdJY-xSgYxPHvufWXeKPY2Iwj7Xj6oNaotCfk7Q130_provenance.
- NP872268.RABcnjYdJY-xSgYxPHvufWXeKPY2Iwj7Xj6oNaotCfk7Q130_assertion evidence source_evidence_literature NP872268.RABcnjYdJY-xSgYxPHvufWXeKPY2Iwj7Xj6oNaotCfk7Q130_provenance.
- NP872268.RABcnjYdJY-xSgYxPHvufWXeKPY2Iwj7Xj6oNaotCfk7Q130_assertion description "[Sequence analysis of the UGT1A1 gene revealed that she was a compound heterozygote with p.[G71R; Y486D] + [Y486D] mutations, which suggests Crigler-Najjar syndrome type II rather than GS.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP872268.RABcnjYdJY-xSgYxPHvufWXeKPY2Iwj7Xj6oNaotCfk7Q130_provenance.