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- source_evidence_literature type ECO_0000212 NP1027661.RA1WfHOK0wxjNBqH1xwBu9DquNzpksGicehcPNmJJg12A130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1027661.RA1WfHOK0wxjNBqH1xwBu9DquNzpksGicehcPNmJJg12A130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1027661.RA1WfHOK0wxjNBqH1xwBu9DquNzpksGicehcPNmJJg12A130_provenance.
- NP1027661.RA1WfHOK0wxjNBqH1xwBu9DquNzpksGicehcPNmJJg12A130_assertion description "[The paternal COL4A5 mutation seems to account for the complete phenotype of ATS in the father and the maternal mutation in MYH9 for the inner ear deafness in the mother.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1027661.RA1WfHOK0wxjNBqH1xwBu9DquNzpksGicehcPNmJJg12A130_provenance.
- NP1027661.RA1WfHOK0wxjNBqH1xwBu9DquNzpksGicehcPNmJJg12A130_assertion evidence source_evidence_literature NP1027661.RA1WfHOK0wxjNBqH1xwBu9DquNzpksGicehcPNmJJg12A130_provenance.
- NP1027661.RA1WfHOK0wxjNBqH1xwBu9DquNzpksGicehcPNmJJg12A130_assertion SIO_000772 23144074 NP1027661.RA1WfHOK0wxjNBqH1xwBu9DquNzpksGicehcPNmJJg12A130_provenance.
- NP1027661.RA1WfHOK0wxjNBqH1xwBu9DquNzpksGicehcPNmJJg12A130_assertion wasDerivedFrom befree-2016 NP1027661.RA1WfHOK0wxjNBqH1xwBu9DquNzpksGicehcPNmJJg12A130_provenance.
- NP1027661.RA1WfHOK0wxjNBqH1xwBu9DquNzpksGicehcPNmJJg12A130_assertion wasGeneratedBy ECO_0000203 NP1027661.RA1WfHOK0wxjNBqH1xwBu9DquNzpksGicehcPNmJJg12A130_provenance.
- befree-2016 importedOn "2016-02-19" NP1027661.RA1WfHOK0wxjNBqH1xwBu9DquNzpksGicehcPNmJJg12A130_provenance.