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- source_evidence_literature type ECO_0000212 NP1276287.RANdvOFSpXqdvd6QyZ_uxL0r1blaIV2wqbgZz4Lo_DyDI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1276287.RANdvOFSpXqdvd6QyZ_uxL0r1blaIV2wqbgZz4Lo_DyDI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1276287.RANdvOFSpXqdvd6QyZ_uxL0r1blaIV2wqbgZz4Lo_DyDI130_provenance.
- NP1276287.RANdvOFSpXqdvd6QyZ_uxL0r1blaIV2wqbgZz4Lo_DyDI130_assertion description "[The TREX1 D18N mutation causes a monogenic, cutaneous form of lupus called familial chilblain lupus, and the TREX1 D18N enzyme exhibits dysfunctional dsDNA-degrading activity, providing a link between dsDNA degradation and nucleic acid-mediated autoimmune disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1276287.RANdvOFSpXqdvd6QyZ_uxL0r1blaIV2wqbgZz4Lo_DyDI130_provenance.
- NP1276287.RANdvOFSpXqdvd6QyZ_uxL0r1blaIV2wqbgZz4Lo_DyDI130_assertion evidence source_evidence_literature NP1276287.RANdvOFSpXqdvd6QyZ_uxL0r1blaIV2wqbgZz4Lo_DyDI130_provenance.
- NP1276287.RANdvOFSpXqdvd6QyZ_uxL0r1blaIV2wqbgZz4Lo_DyDI130_assertion SIO_000772 25848017 NP1276287.RANdvOFSpXqdvd6QyZ_uxL0r1blaIV2wqbgZz4Lo_DyDI130_provenance.
- NP1276287.RANdvOFSpXqdvd6QyZ_uxL0r1blaIV2wqbgZz4Lo_DyDI130_assertion wasDerivedFrom befree-2016 NP1276287.RANdvOFSpXqdvd6QyZ_uxL0r1blaIV2wqbgZz4Lo_DyDI130_provenance.
- NP1276287.RANdvOFSpXqdvd6QyZ_uxL0r1blaIV2wqbgZz4Lo_DyDI130_assertion wasGeneratedBy ECO_0000203 NP1276287.RANdvOFSpXqdvd6QyZ_uxL0r1blaIV2wqbgZz4Lo_DyDI130_provenance.
- befree-2016 importedOn "2016-02-19" NP1276287.RANdvOFSpXqdvd6QyZ_uxL0r1blaIV2wqbgZz4Lo_DyDI130_provenance.