Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1312221.RA0yfD-RgrJKnr1jPtkvAYueucEWvyOKw_Z5EiDC5C4hk130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1312221.RA0yfD-RgrJKnr1jPtkvAYueucEWvyOKw_Z5EiDC5C4hk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1312221.RA0yfD-RgrJKnr1jPtkvAYueucEWvyOKw_Z5EiDC5C4hk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1312221.RA0yfD-RgrJKnr1jPtkvAYueucEWvyOKw_Z5EiDC5C4hk130_provenance.
- NP1312221.RA0yfD-RgrJKnr1jPtkvAYueucEWvyOKw_Z5EiDC5C4hk130_assertion description "[An A-to-G mutation at the +3 position of intron 8 of the HEXA gene is associated with exon 8 skipping and Tay-Sachs disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1312221.RA0yfD-RgrJKnr1jPtkvAYueucEWvyOKw_Z5EiDC5C4hk130_provenance.
- NP1312221.RA0yfD-RgrJKnr1jPtkvAYueucEWvyOKw_Z5EiDC5C4hk130_assertion evidence source_evidence_literature NP1312221.RA0yfD-RgrJKnr1jPtkvAYueucEWvyOKw_Z5EiDC5C4hk130_provenance.
- NP1312221.RA0yfD-RgrJKnr1jPtkvAYueucEWvyOKw_Z5EiDC5C4hk130_assertion SIO_000772 7551830 NP1312221.RA0yfD-RgrJKnr1jPtkvAYueucEWvyOKw_Z5EiDC5C4hk130_provenance.
- NP1312221.RA0yfD-RgrJKnr1jPtkvAYueucEWvyOKw_Z5EiDC5C4hk130_assertion wasDerivedFrom befree-2016 NP1312221.RA0yfD-RgrJKnr1jPtkvAYueucEWvyOKw_Z5EiDC5C4hk130_provenance.
- NP1312221.RA0yfD-RgrJKnr1jPtkvAYueucEWvyOKw_Z5EiDC5C4hk130_assertion wasGeneratedBy ECO_0000203 NP1312221.RA0yfD-RgrJKnr1jPtkvAYueucEWvyOKw_Z5EiDC5C4hk130_provenance.
- befree-2016 importedOn "2016-02-19" NP1312221.RA0yfD-RgrJKnr1jPtkvAYueucEWvyOKw_Z5EiDC5C4hk130_provenance.