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- source_evidence_literature type ECO_0000212 NP1002281.RAUfP13MnFotR-c_QuIb2YG5aZy14-NalCRqW5AidPUVI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1002281.RAUfP13MnFotR-c_QuIb2YG5aZy14-NalCRqW5AidPUVI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1002281.RAUfP13MnFotR-c_QuIb2YG5aZy14-NalCRqW5AidPUVI130_provenance.
- NP1002281.RAUfP13MnFotR-c_QuIb2YG5aZy14-NalCRqW5AidPUVI130_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." NP1002281.RAUfP13MnFotR-c_QuIb2YG5aZy14-NalCRqW5AidPUVI130_provenance.
- NP1002281.RAUfP13MnFotR-c_QuIb2YG5aZy14-NalCRqW5AidPUVI130_assertion evidence source_evidence_literature NP1002281.RAUfP13MnFotR-c_QuIb2YG5aZy14-NalCRqW5AidPUVI130_provenance.
- NP1002281.RAUfP13MnFotR-c_QuIb2YG5aZy14-NalCRqW5AidPUVI130_assertion SIO_000772 19123159 NP1002281.RAUfP13MnFotR-c_QuIb2YG5aZy14-NalCRqW5AidPUVI130_provenance.
- NP1002281.RAUfP13MnFotR-c_QuIb2YG5aZy14-NalCRqW5AidPUVI130_assertion wasDerivedFrom befree-20150227 NP1002281.RAUfP13MnFotR-c_QuIb2YG5aZy14-NalCRqW5AidPUVI130_provenance.
- NP1002281.RAUfP13MnFotR-c_QuIb2YG5aZy14-NalCRqW5AidPUVI130_assertion wasGeneratedBy ECO_0000203 NP1002281.RAUfP13MnFotR-c_QuIb2YG5aZy14-NalCRqW5AidPUVI130_provenance.
- befree-20150227 importedOn "2015-02-27" NP1002281.RAUfP13MnFotR-c_QuIb2YG5aZy14-NalCRqW5AidPUVI130_provenance.