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- source_evidence_literature type ECO_0000212 NP933168.RAvaSOm9CSKsHPxvr23Yi4AgPZj6SyLKleVPqAkBr165A130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP933168.RAvaSOm9CSKsHPxvr23Yi4AgPZj6SyLKleVPqAkBr165A130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP933168.RAvaSOm9CSKsHPxvr23Yi4AgPZj6SyLKleVPqAkBr165A130_provenance.
- NP933168.RAvaSOm9CSKsHPxvr23Yi4AgPZj6SyLKleVPqAkBr165A130_assertion description "[These findings expand the phenotype associated with AFG3L2 mutations and suggest that AFG3L2-related disease should be considered in the differential diagnosis of spastic ataxias.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP933168.RAvaSOm9CSKsHPxvr23Yi4AgPZj6SyLKleVPqAkBr165A130_provenance.
- NP933168.RAvaSOm9CSKsHPxvr23Yi4AgPZj6SyLKleVPqAkBr165A130_assertion evidence source_evidence_literature NP933168.RAvaSOm9CSKsHPxvr23Yi4AgPZj6SyLKleVPqAkBr165A130_provenance.
- NP933168.RAvaSOm9CSKsHPxvr23Yi4AgPZj6SyLKleVPqAkBr165A130_assertion SIO_000772 22022284 NP933168.RAvaSOm9CSKsHPxvr23Yi4AgPZj6SyLKleVPqAkBr165A130_provenance.
- NP933168.RAvaSOm9CSKsHPxvr23Yi4AgPZj6SyLKleVPqAkBr165A130_assertion wasDerivedFrom befree-2016 NP933168.RAvaSOm9CSKsHPxvr23Yi4AgPZj6SyLKleVPqAkBr165A130_provenance.
- NP933168.RAvaSOm9CSKsHPxvr23Yi4AgPZj6SyLKleVPqAkBr165A130_assertion wasGeneratedBy ECO_0000203 NP933168.RAvaSOm9CSKsHPxvr23Yi4AgPZj6SyLKleVPqAkBr165A130_provenance.
- befree-2016 importedOn "2016-02-19" NP933168.RAvaSOm9CSKsHPxvr23Yi4AgPZj6SyLKleVPqAkBr165A130_provenance.