Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1330986.RA-rVSHDoRtE5VO9Ky2EUFtANQ3mJyY0SRuvgMcqLTBjU130_assertion> ?p ?o ?g. }
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- NP1330986.RA-rVSHDoRtE5VO9Ky2EUFtANQ3mJyY0SRuvgMcqLTBjU130_assertion type Assertion NP1330986.RA-rVSHDoRtE5VO9Ky2EUFtANQ3mJyY0SRuvgMcqLTBjU130_head.
- NP1330986.RA-rVSHDoRtE5VO9Ky2EUFtANQ3mJyY0SRuvgMcqLTBjU130_assertion wasGeneratedBy ECO_0000203 NP1330986.RA-rVSHDoRtE5VO9Ky2EUFtANQ3mJyY0SRuvgMcqLTBjU130_provenance.
- NP1330986.RA-rVSHDoRtE5VO9Ky2EUFtANQ3mJyY0SRuvgMcqLTBjU130_assertion wasDerivedFrom befree-2016 NP1330986.RA-rVSHDoRtE5VO9Ky2EUFtANQ3mJyY0SRuvgMcqLTBjU130_provenance.
- NP1330986.RA-rVSHDoRtE5VO9Ky2EUFtANQ3mJyY0SRuvgMcqLTBjU130_assertion SIO_000772 8058286 NP1330986.RA-rVSHDoRtE5VO9Ky2EUFtANQ3mJyY0SRuvgMcqLTBjU130_provenance.
- NP1330986.RA-rVSHDoRtE5VO9Ky2EUFtANQ3mJyY0SRuvgMcqLTBjU130_assertion evidence source_evidence_literature NP1330986.RA-rVSHDoRtE5VO9Ky2EUFtANQ3mJyY0SRuvgMcqLTBjU130_provenance.
- NP1330986.RA-rVSHDoRtE5VO9Ky2EUFtANQ3mJyY0SRuvgMcqLTBjU130_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." NP1330986.RA-rVSHDoRtE5VO9Ky2EUFtANQ3mJyY0SRuvgMcqLTBjU130_provenance.