Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1312221.RA0yfD-RgrJKnr1jPtkvAYueucEWvyOKw_Z5EiDC5C4hk130_assertion> ?p ?o ?g. }
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- NP1312221.RA0yfD-RgrJKnr1jPtkvAYueucEWvyOKw_Z5EiDC5C4hk130_assertion type Assertion NP1312221.RA0yfD-RgrJKnr1jPtkvAYueucEWvyOKw_Z5EiDC5C4hk130_head.
- 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.