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- source_evidence_literature type ECO_0000212 NP797477.RAG58trxXhS4Y9_lNS_J66wjqMazDO_3Z442E5zYKWYYA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP797477.RAG58trxXhS4Y9_lNS_J66wjqMazDO_3Z442E5zYKWYYA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP797477.RAG58trxXhS4Y9_lNS_J66wjqMazDO_3Z442E5zYKWYYA130_provenance.
- NP797477.RAG58trxXhS4Y9_lNS_J66wjqMazDO_3Z442E5zYKWYYA130_assertion description "[We have previously reported a case of XL-EDA-ID with somatic mosaicism caused by a duplication mutation of the NEMO gene, but the frequency of somatic mosaicism of NEMO and its clinical impact on XL-EDA-ID is not fully understood.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP797477.RAG58trxXhS4Y9_lNS_J66wjqMazDO_3Z442E5zYKWYYA130_provenance.
- NP797477.RAG58trxXhS4Y9_lNS_J66wjqMazDO_3Z442E5zYKWYYA130_assertion evidence source_evidence_literature NP797477.RAG58trxXhS4Y9_lNS_J66wjqMazDO_3Z442E5zYKWYYA130_provenance.
- NP797477.RAG58trxXhS4Y9_lNS_J66wjqMazDO_3Z442E5zYKWYYA130_assertion SIO_000772 22517901 NP797477.RAG58trxXhS4Y9_lNS_J66wjqMazDO_3Z442E5zYKWYYA130_provenance.
- NP797477.RAG58trxXhS4Y9_lNS_J66wjqMazDO_3Z442E5zYKWYYA130_assertion wasDerivedFrom befree-20150227 NP797477.RAG58trxXhS4Y9_lNS_J66wjqMazDO_3Z442E5zYKWYYA130_provenance.
- NP797477.RAG58trxXhS4Y9_lNS_J66wjqMazDO_3Z442E5zYKWYYA130_assertion wasGeneratedBy ECO_0000203 NP797477.RAG58trxXhS4Y9_lNS_J66wjqMazDO_3Z442E5zYKWYYA130_provenance.
- befree-20150227 importedOn "2015-02-27" NP797477.RAG58trxXhS4Y9_lNS_J66wjqMazDO_3Z442E5zYKWYYA130_provenance.