Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP296722.RAP45GZGAf9Mcapzo6uxreZvfKKcbquRYEdomyOd980lQ130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP296722.RAP45GZGAf9Mcapzo6uxreZvfKKcbquRYEdomyOd980lQ130_assertion type Assertion NP296722.RAP45GZGAf9Mcapzo6uxreZvfKKcbquRYEdomyOd980lQ130_head.
- NP296722.RAP45GZGAf9Mcapzo6uxreZvfKKcbquRYEdomyOd980lQ130_assertion wasGeneratedBy ECO_0000203 NP296722.RAP45GZGAf9Mcapzo6uxreZvfKKcbquRYEdomyOd980lQ130_provenance.
- NP296722.RAP45GZGAf9Mcapzo6uxreZvfKKcbquRYEdomyOd980lQ130_assertion wasDerivedFrom befree-20140225 NP296722.RAP45GZGAf9Mcapzo6uxreZvfKKcbquRYEdomyOd980lQ130_provenance.
- NP296722.RAP45GZGAf9Mcapzo6uxreZvfKKcbquRYEdomyOd980lQ130_assertion SIO_000772 8058286 NP296722.RAP45GZGAf9Mcapzo6uxreZvfKKcbquRYEdomyOd980lQ130_provenance.
- NP296722.RAP45GZGAf9Mcapzo6uxreZvfKKcbquRYEdomyOd980lQ130_assertion evidence source_evidence_literature NP296722.RAP45GZGAf9Mcapzo6uxreZvfKKcbquRYEdomyOd980lQ130_provenance.
- NP296722.RAP45GZGAf9Mcapzo6uxreZvfKKcbquRYEdomyOd980lQ130_assertion description "[A mutation in codon 216 of the peripherin/rds gene, resulting in a substitution of the amino acid serine for proline, was found to segregate with retinitis pigmentosa in these two families.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP296722.RAP45GZGAf9Mcapzo6uxreZvfKKcbquRYEdomyOd980lQ130_provenance.