Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP481633.RA-hZBryICbfjK3j82MGcU7RhAhINAytUIwyv5giRUAdA#assertion> ?p ?o ?g. }
Showing items 1 to 5 of
5
with 100 items per page.
- 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." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 7551830 provenance.
- assertion wasDerivedFrom GAD provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.