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- source_evidence_literature type ECO_0000212 NP621703.RAQzb4_GWbiIXcPL2lygr83MEDXlc5eM-ldjNRfkduzvk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP621703.RAQzb4_GWbiIXcPL2lygr83MEDXlc5eM-ldjNRfkduzvk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP621703.RAQzb4_GWbiIXcPL2lygr83MEDXlc5eM-ldjNRfkduzvk130_provenance.
- NP621703.RAQzb4_GWbiIXcPL2lygr83MEDXlc5eM-ldjNRfkduzvk130_assertion description "[A high frequency (23%) of mutations in the peripherin/RDS gene was found in a cohort of 61 unrelated patients with various types of autosomal dominant central retinal dystrophies as compared with a low prevalence (1.3%) of mutations in this gene causing retinitis pigmentosa in a Spanish population.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP621703.RAQzb4_GWbiIXcPL2lygr83MEDXlc5eM-ldjNRfkduzvk130_provenance.
- NP621703.RAQzb4_GWbiIXcPL2lygr83MEDXlc5eM-ldjNRfkduzvk130_assertion evidence source_evidence_literature NP621703.RAQzb4_GWbiIXcPL2lygr83MEDXlc5eM-ldjNRfkduzvk130_provenance.
- NP621703.RAQzb4_GWbiIXcPL2lygr83MEDXlc5eM-ldjNRfkduzvk130_assertion SIO_000772 17653047 NP621703.RAQzb4_GWbiIXcPL2lygr83MEDXlc5eM-ldjNRfkduzvk130_provenance.
- NP621703.RAQzb4_GWbiIXcPL2lygr83MEDXlc5eM-ldjNRfkduzvk130_assertion wasDerivedFrom befree-2016 NP621703.RAQzb4_GWbiIXcPL2lygr83MEDXlc5eM-ldjNRfkduzvk130_provenance.
- NP621703.RAQzb4_GWbiIXcPL2lygr83MEDXlc5eM-ldjNRfkduzvk130_assertion wasGeneratedBy ECO_0000203 NP621703.RAQzb4_GWbiIXcPL2lygr83MEDXlc5eM-ldjNRfkduzvk130_provenance.
- befree-2016 importedOn "2016-02-19" NP621703.RAQzb4_GWbiIXcPL2lygr83MEDXlc5eM-ldjNRfkduzvk130_provenance.