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- source_evidence_literature type ECO_0000212 NP1137246.RAMZiPMX8qaQzA56bvHjYjnVUO2USx4FnPA0uL_fEN38A130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1137246.RAMZiPMX8qaQzA56bvHjYjnVUO2USx4FnPA0uL_fEN38A130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1137246.RAMZiPMX8qaQzA56bvHjYjnVUO2USx4FnPA0uL_fEN38A130_provenance.
- NP1137246.RAMZiPMX8qaQzA56bvHjYjnVUO2USx4FnPA0uL_fEN38A130_assertion description "[Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1137246.RAMZiPMX8qaQzA56bvHjYjnVUO2USx4FnPA0uL_fEN38A130_provenance.
- NP1137246.RAMZiPMX8qaQzA56bvHjYjnVUO2USx4FnPA0uL_fEN38A130_assertion evidence source_evidence_literature NP1137246.RAMZiPMX8qaQzA56bvHjYjnVUO2USx4FnPA0uL_fEN38A130_provenance.
- NP1137246.RAMZiPMX8qaQzA56bvHjYjnVUO2USx4FnPA0uL_fEN38A130_assertion SIO_000772 24341803 NP1137246.RAMZiPMX8qaQzA56bvHjYjnVUO2USx4FnPA0uL_fEN38A130_provenance.
- NP1137246.RAMZiPMX8qaQzA56bvHjYjnVUO2USx4FnPA0uL_fEN38A130_assertion wasDerivedFrom befree-2016 NP1137246.RAMZiPMX8qaQzA56bvHjYjnVUO2USx4FnPA0uL_fEN38A130_provenance.
- NP1137246.RAMZiPMX8qaQzA56bvHjYjnVUO2USx4FnPA0uL_fEN38A130_assertion wasGeneratedBy ECO_0000203 NP1137246.RAMZiPMX8qaQzA56bvHjYjnVUO2USx4FnPA0uL_fEN38A130_provenance.
- befree-2016 importedOn "2016-02-19" NP1137246.RAMZiPMX8qaQzA56bvHjYjnVUO2USx4FnPA0uL_fEN38A130_provenance.