Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1347076.RAoWjzW8vS1LDsxa-pl5x7oyaBagZ5EFiy6ywhYLTlv-4130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP1347076.RAoWjzW8vS1LDsxa-pl5x7oyaBagZ5EFiy6ywhYLTlv-4130_assertion type Assertion NP1347076.RAoWjzW8vS1LDsxa-pl5x7oyaBagZ5EFiy6ywhYLTlv-4130_head.
- NP1347076.RAoWjzW8vS1LDsxa-pl5x7oyaBagZ5EFiy6ywhYLTlv-4130_assertion description "[The absence of detectable peripherin/RDS mutations in these families suggests either that: (i) mutations in other digenic partners are required for pathogenic ROM1 alleles to cause retinal degeneration; (ii) these ROM1 mutations do not cause RP; or (iii) peripherin/RDS mutations are present but were not identified in these patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1347076.RAoWjzW8vS1LDsxa-pl5x7oyaBagZ5EFiy6ywhYLTlv-4130_provenance.
- NP1347076.RAoWjzW8vS1LDsxa-pl5x7oyaBagZ5EFiy6ywhYLTlv-4130_assertion evidence source_evidence_literature NP1347076.RAoWjzW8vS1LDsxa-pl5x7oyaBagZ5EFiy6ywhYLTlv-4130_provenance.
- NP1347076.RAoWjzW8vS1LDsxa-pl5x7oyaBagZ5EFiy6ywhYLTlv-4130_assertion SIO_000772 8595413 NP1347076.RAoWjzW8vS1LDsxa-pl5x7oyaBagZ5EFiy6ywhYLTlv-4130_provenance.
- NP1347076.RAoWjzW8vS1LDsxa-pl5x7oyaBagZ5EFiy6ywhYLTlv-4130_assertion wasDerivedFrom befree-2016 NP1347076.RAoWjzW8vS1LDsxa-pl5x7oyaBagZ5EFiy6ywhYLTlv-4130_provenance.
- NP1347076.RAoWjzW8vS1LDsxa-pl5x7oyaBagZ5EFiy6ywhYLTlv-4130_assertion wasGeneratedBy ECO_0000203 NP1347076.RAoWjzW8vS1LDsxa-pl5x7oyaBagZ5EFiy6ywhYLTlv-4130_provenance.