Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP594351.RAXrFaMGKU_E_jUv_srntC_8LQBvx-fILyY1QkSOeoJ0s#assertion> ?p ?o ?g. }
Showing items 1 to 5 of
5
with 100 items per page.
- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom LHGDN provenance.
- assertion SIO_000772 11875049 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[This mutant isoenzyme maps to human chromosome region 7q and has an amino acid substitution (arginine for proline)/is involved in the etiology of autosomal dominant retinitis pigmentosa in humans.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.