Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP155303.RAEjv8TKn9Ir94T57emAi1hjjFIywFwb4fDqC0KLVTCc8130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP155303.RAEjv8TKn9Ir94T57emAi1hjjFIywFwb4fDqC0KLVTCc8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP155303.RAEjv8TKn9Ir94T57emAi1hjjFIywFwb4fDqC0KLVTCc8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP155303.RAEjv8TKn9Ir94T57emAi1hjjFIywFwb4fDqC0KLVTCc8130_provenance.
- NP155303.RAEjv8TKn9Ir94T57emAi1hjjFIywFwb4fDqC0KLVTCc8130_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." NP155303.RAEjv8TKn9Ir94T57emAi1hjjFIywFwb4fDqC0KLVTCc8130_provenance.
- NP155303.RAEjv8TKn9Ir94T57emAi1hjjFIywFwb4fDqC0KLVTCc8130_assertion evidence source_evidence_literature NP155303.RAEjv8TKn9Ir94T57emAi1hjjFIywFwb4fDqC0KLVTCc8130_provenance.
- NP155303.RAEjv8TKn9Ir94T57emAi1hjjFIywFwb4fDqC0KLVTCc8130_assertion SIO_000772 22022284 NP155303.RAEjv8TKn9Ir94T57emAi1hjjFIywFwb4fDqC0KLVTCc8130_provenance.
- NP155303.RAEjv8TKn9Ir94T57emAi1hjjFIywFwb4fDqC0KLVTCc8130_assertion wasDerivedFrom befree-20140225 NP155303.RAEjv8TKn9Ir94T57emAi1hjjFIywFwb4fDqC0KLVTCc8130_provenance.
- NP155303.RAEjv8TKn9Ir94T57emAi1hjjFIywFwb4fDqC0KLVTCc8130_assertion wasGeneratedBy ECO_0000203 NP155303.RAEjv8TKn9Ir94T57emAi1hjjFIywFwb4fDqC0KLVTCc8130_provenance.
- befree-20140225 importedOn "2014-02-25" NP155303.RAEjv8TKn9Ir94T57emAi1hjjFIywFwb4fDqC0KLVTCc8130_provenance.