Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP129291.RAaPWF7WM5TzekvEiPpQLWkxXA6KpYT8ZTSGmvZoDR1t4130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP129291.RAaPWF7WM5TzekvEiPpQLWkxXA6KpYT8ZTSGmvZoDR1t4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP129291.RAaPWF7WM5TzekvEiPpQLWkxXA6KpYT8ZTSGmvZoDR1t4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP129291.RAaPWF7WM5TzekvEiPpQLWkxXA6KpYT8ZTSGmvZoDR1t4130_provenance.
- NP129291.RAaPWF7WM5TzekvEiPpQLWkxXA6KpYT8ZTSGmvZoDR1t4130_assertion description "[A total of 119 unrelated children (107 sporadic and 12 familial cases) with prelingual nonsyndromic HL underwent mutational screening for DFNB1 in the noncoding and coding exons of GJB2, in addition to the del(GJB6-D13S1830) mutation of GJB6.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP129291.RAaPWF7WM5TzekvEiPpQLWkxXA6KpYT8ZTSGmvZoDR1t4130_provenance.
- NP129291.RAaPWF7WM5TzekvEiPpQLWkxXA6KpYT8ZTSGmvZoDR1t4130_assertion evidence source_evidence_literature NP129291.RAaPWF7WM5TzekvEiPpQLWkxXA6KpYT8ZTSGmvZoDR1t4130_provenance.
- NP129291.RAaPWF7WM5TzekvEiPpQLWkxXA6KpYT8ZTSGmvZoDR1t4130_assertion SIO_000772 18758381 NP129291.RAaPWF7WM5TzekvEiPpQLWkxXA6KpYT8ZTSGmvZoDR1t4130_provenance.
- NP129291.RAaPWF7WM5TzekvEiPpQLWkxXA6KpYT8ZTSGmvZoDR1t4130_assertion wasDerivedFrom gad-20150221 NP129291.RAaPWF7WM5TzekvEiPpQLWkxXA6KpYT8ZTSGmvZoDR1t4130_provenance.
- NP129291.RAaPWF7WM5TzekvEiPpQLWkxXA6KpYT8ZTSGmvZoDR1t4130_assertion wasGeneratedBy ECO_0000203 NP129291.RAaPWF7WM5TzekvEiPpQLWkxXA6KpYT8ZTSGmvZoDR1t4130_provenance.
- gad-20150221 importedOn "2015-02-21" NP129291.RAaPWF7WM5TzekvEiPpQLWkxXA6KpYT8ZTSGmvZoDR1t4130_provenance.