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- source_evidence_literature type ECO_0000212 NP978018.RA802Pm1G2FR_J8arkaUwrTwluyL_RhKYWkWlF-GPwLsQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP978018.RA802Pm1G2FR_J8arkaUwrTwluyL_RhKYWkWlF-GPwLsQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP978018.RA802Pm1G2FR_J8arkaUwrTwluyL_RhKYWkWlF-GPwLsQ130_provenance.
- NP978018.RA802Pm1G2FR_J8arkaUwrTwluyL_RhKYWkWlF-GPwLsQ130_assertion description "[We report the case of a 6-year-old boy with typical electrophysiology findings of KCNV2 retinopathy but with abnormal cone dysfunction compared to other patients with mutations in KCNV2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP978018.RA802Pm1G2FR_J8arkaUwrTwluyL_RhKYWkWlF-GPwLsQ130_provenance.
- NP978018.RA802Pm1G2FR_J8arkaUwrTwluyL_RhKYWkWlF-GPwLsQ130_assertion evidence source_evidence_literature NP978018.RA802Pm1G2FR_J8arkaUwrTwluyL_RhKYWkWlF-GPwLsQ130_provenance.
- NP978018.RA802Pm1G2FR_J8arkaUwrTwluyL_RhKYWkWlF-GPwLsQ130_assertion SIO_000772 24210337 NP978018.RA802Pm1G2FR_J8arkaUwrTwluyL_RhKYWkWlF-GPwLsQ130_provenance.
- NP978018.RA802Pm1G2FR_J8arkaUwrTwluyL_RhKYWkWlF-GPwLsQ130_assertion wasDerivedFrom befree-20150227 NP978018.RA802Pm1G2FR_J8arkaUwrTwluyL_RhKYWkWlF-GPwLsQ130_provenance.
- NP978018.RA802Pm1G2FR_J8arkaUwrTwluyL_RhKYWkWlF-GPwLsQ130_assertion wasGeneratedBy ECO_0000203 NP978018.RA802Pm1G2FR_J8arkaUwrTwluyL_RhKYWkWlF-GPwLsQ130_provenance.
- befree-20150227 importedOn "2015-02-27" NP978018.RA802Pm1G2FR_J8arkaUwrTwluyL_RhKYWkWlF-GPwLsQ130_provenance.