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- source_evidence_literature type ECO_0000212 NP712313.RAU_h5oVfNHiOl1m-MAOtiRx8Ne1sfZWHjGsNkxtuUafg130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP712313.RAU_h5oVfNHiOl1m-MAOtiRx8Ne1sfZWHjGsNkxtuUafg130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP712313.RAU_h5oVfNHiOl1m-MAOtiRx8Ne1sfZWHjGsNkxtuUafg130_provenance.
- NP712313.RAU_h5oVfNHiOl1m-MAOtiRx8Ne1sfZWHjGsNkxtuUafg130_assertion description "[The novel mutation p.G315X in the OA1 gene was identified in a Chinese family with ocular albinism, which is predicted to generate a premature stop codon.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP712313.RAU_h5oVfNHiOl1m-MAOtiRx8Ne1sfZWHjGsNkxtuUafg130_provenance.
- NP712313.RAU_h5oVfNHiOl1m-MAOtiRx8Ne1sfZWHjGsNkxtuUafg130_assertion evidence source_evidence_literature NP712313.RAU_h5oVfNHiOl1m-MAOtiRx8Ne1sfZWHjGsNkxtuUafg130_provenance.
- NP712313.RAU_h5oVfNHiOl1m-MAOtiRx8Ne1sfZWHjGsNkxtuUafg130_assertion SIO_000772 19123159 NP712313.RAU_h5oVfNHiOl1m-MAOtiRx8Ne1sfZWHjGsNkxtuUafg130_provenance.
- NP712313.RAU_h5oVfNHiOl1m-MAOtiRx8Ne1sfZWHjGsNkxtuUafg130_assertion wasDerivedFrom befree-2016 NP712313.RAU_h5oVfNHiOl1m-MAOtiRx8Ne1sfZWHjGsNkxtuUafg130_provenance.
- NP712313.RAU_h5oVfNHiOl1m-MAOtiRx8Ne1sfZWHjGsNkxtuUafg130_assertion wasGeneratedBy ECO_0000203 NP712313.RAU_h5oVfNHiOl1m-MAOtiRx8Ne1sfZWHjGsNkxtuUafg130_provenance.
- befree-2016 importedOn "2016-02-19" NP712313.RAU_h5oVfNHiOl1m-MAOtiRx8Ne1sfZWHjGsNkxtuUafg130_provenance.