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- source_evidence_literature type ECO_0000212 NP599863.RAZLme9NsLF7BVXz-5wwu-WVzs23kku9UsDoSiWFHvixI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP599863.RAZLme9NsLF7BVXz-5wwu-WVzs23kku9UsDoSiWFHvixI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP599863.RAZLme9NsLF7BVXz-5wwu-WVzs23kku9UsDoSiWFHvixI130_provenance.
- NP599863.RAZLme9NsLF7BVXz-5wwu-WVzs23kku9UsDoSiWFHvixI130_assertion description "[A family history of uveitis supported a diagnosis of Blau syndrome, and analysis of the NOD2 gene revealed a heterozygous gain-of-function missense mutation (Arg334Trp) that has previously been detected in Blau syndrome kindreds.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP599863.RAZLme9NsLF7BVXz-5wwu-WVzs23kku9UsDoSiWFHvixI130_provenance.
- NP599863.RAZLme9NsLF7BVXz-5wwu-WVzs23kku9UsDoSiWFHvixI130_assertion evidence source_evidence_literature NP599863.RAZLme9NsLF7BVXz-5wwu-WVzs23kku9UsDoSiWFHvixI130_provenance.
- NP599863.RAZLme9NsLF7BVXz-5wwu-WVzs23kku9UsDoSiWFHvixI130_assertion SIO_000772 17372104 NP599863.RAZLme9NsLF7BVXz-5wwu-WVzs23kku9UsDoSiWFHvixI130_provenance.
- NP599863.RAZLme9NsLF7BVXz-5wwu-WVzs23kku9UsDoSiWFHvixI130_assertion wasDerivedFrom befree-2016 NP599863.RAZLme9NsLF7BVXz-5wwu-WVzs23kku9UsDoSiWFHvixI130_provenance.
- NP599863.RAZLme9NsLF7BVXz-5wwu-WVzs23kku9UsDoSiWFHvixI130_assertion wasGeneratedBy ECO_0000203 NP599863.RAZLme9NsLF7BVXz-5wwu-WVzs23kku9UsDoSiWFHvixI130_provenance.
- befree-2016 importedOn "2016-02-19" NP599863.RAZLme9NsLF7BVXz-5wwu-WVzs23kku9UsDoSiWFHvixI130_provenance.