Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP247121.RA4l9EehN9ILmO4yLkkVw5p-YW1UmTY3INA25RchZZFnM130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP247121.RA4l9EehN9ILmO4yLkkVw5p-YW1UmTY3INA25RchZZFnM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP247121.RA4l9EehN9ILmO4yLkkVw5p-YW1UmTY3INA25RchZZFnM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP247121.RA4l9EehN9ILmO4yLkkVw5p-YW1UmTY3INA25RchZZFnM130_provenance.
- NP247121.RA4l9EehN9ILmO4yLkkVw5p-YW1UmTY3INA25RchZZFnM130_assertion description "[Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP247121.RA4l9EehN9ILmO4yLkkVw5p-YW1UmTY3INA25RchZZFnM130_provenance.
- NP247121.RA4l9EehN9ILmO4yLkkVw5p-YW1UmTY3INA25RchZZFnM130_assertion evidence source_evidence_literature NP247121.RA4l9EehN9ILmO4yLkkVw5p-YW1UmTY3INA25RchZZFnM130_provenance.
- NP247121.RA4l9EehN9ILmO4yLkkVw5p-YW1UmTY3INA25RchZZFnM130_assertion SIO_000772 22022284 NP247121.RA4l9EehN9ILmO4yLkkVw5p-YW1UmTY3INA25RchZZFnM130_provenance.
- NP247121.RA4l9EehN9ILmO4yLkkVw5p-YW1UmTY3INA25RchZZFnM130_assertion wasDerivedFrom befree-20150227 NP247121.RA4l9EehN9ILmO4yLkkVw5p-YW1UmTY3INA25RchZZFnM130_provenance.
- NP247121.RA4l9EehN9ILmO4yLkkVw5p-YW1UmTY3INA25RchZZFnM130_assertion wasGeneratedBy ECO_0000203 NP247121.RA4l9EehN9ILmO4yLkkVw5p-YW1UmTY3INA25RchZZFnM130_provenance.
- befree-20150227 importedOn "2015-02-27" NP247121.RA4l9EehN9ILmO4yLkkVw5p-YW1UmTY3INA25RchZZFnM130_provenance.