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- source_evidence_literature type ECO_0000212 NP662667.RAUEzC_kC1h9K0jpv2mGIFVHJ2qudMZTbQm77KbHXI9g0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP662667.RAUEzC_kC1h9K0jpv2mGIFVHJ2qudMZTbQm77KbHXI9g0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP662667.RAUEzC_kC1h9K0jpv2mGIFVHJ2qudMZTbQm77KbHXI9g0130_provenance.
- befree-2016 importedOn "2016-02-19" NP662667.RAUEzC_kC1h9K0jpv2mGIFVHJ2qudMZTbQm77KbHXI9g0130_provenance.
- NP662667.RAUEzC_kC1h9K0jpv2mGIFVHJ2qudMZTbQm77KbHXI9g0130_assertion wasGeneratedBy ECO_0000203 NP662667.RAUEzC_kC1h9K0jpv2mGIFVHJ2qudMZTbQm77KbHXI9g0130_provenance.
- NP662667.RAUEzC_kC1h9K0jpv2mGIFVHJ2qudMZTbQm77KbHXI9g0130_assertion wasDerivedFrom befree-2016 NP662667.RAUEzC_kC1h9K0jpv2mGIFVHJ2qudMZTbQm77KbHXI9g0130_provenance.
- NP662667.RAUEzC_kC1h9K0jpv2mGIFVHJ2qudMZTbQm77KbHXI9g0130_assertion SIO_000772 18371931 NP662667.RAUEzC_kC1h9K0jpv2mGIFVHJ2qudMZTbQm77KbHXI9g0130_provenance.
- NP662667.RAUEzC_kC1h9K0jpv2mGIFVHJ2qudMZTbQm77KbHXI9g0130_assertion evidence source_evidence_literature NP662667.RAUEzC_kC1h9K0jpv2mGIFVHJ2qudMZTbQm77KbHXI9g0130_provenance.
- NP662667.RAUEzC_kC1h9K0jpv2mGIFVHJ2qudMZTbQm77KbHXI9g0130_assertion description "[We demonstrate that the pcy mutation generates a hypomorphic Nphp3 allele that is responsible for the cystic kidney disease phenotype, whereas complete loss of Nphp3 function results in situs inversus, congenital heart defects, and embryonic lethality in mice.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP662667.RAUEzC_kC1h9K0jpv2mGIFVHJ2qudMZTbQm77KbHXI9g0130_provenance.