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- source_evidence_literature type ECO_0000212 NP649204.RA3_Y9OZD8BusV-r_O-bTchoXTUmkNrTel-f91wGO_1hI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP649204.RA3_Y9OZD8BusV-r_O-bTchoXTUmkNrTel-f91wGO_1hI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP649204.RA3_Y9OZD8BusV-r_O-bTchoXTUmkNrTel-f91wGO_1hI130_provenance.
- NP649204.RA3_Y9OZD8BusV-r_O-bTchoXTUmkNrTel-f91wGO_1hI130_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." NP649204.RA3_Y9OZD8BusV-r_O-bTchoXTUmkNrTel-f91wGO_1hI130_provenance.
- NP649204.RA3_Y9OZD8BusV-r_O-bTchoXTUmkNrTel-f91wGO_1hI130_assertion evidence source_evidence_literature NP649204.RA3_Y9OZD8BusV-r_O-bTchoXTUmkNrTel-f91wGO_1hI130_provenance.
- NP649204.RA3_Y9OZD8BusV-r_O-bTchoXTUmkNrTel-f91wGO_1hI130_assertion SIO_000772 17653047 NP649204.RA3_Y9OZD8BusV-r_O-bTchoXTUmkNrTel-f91wGO_1hI130_provenance.
- NP649204.RA3_Y9OZD8BusV-r_O-bTchoXTUmkNrTel-f91wGO_1hI130_assertion wasDerivedFrom befree-20150227 NP649204.RA3_Y9OZD8BusV-r_O-bTchoXTUmkNrTel-f91wGO_1hI130_provenance.
- NP649204.RA3_Y9OZD8BusV-r_O-bTchoXTUmkNrTel-f91wGO_1hI130_assertion wasGeneratedBy ECO_0000203 NP649204.RA3_Y9OZD8BusV-r_O-bTchoXTUmkNrTel-f91wGO_1hI130_provenance.
- befree-20150227 importedOn "2015-02-27" NP649204.RA3_Y9OZD8BusV-r_O-bTchoXTUmkNrTel-f91wGO_1hI130_provenance.