Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP378252.RAGl4YHEV78t2-L_V9t0GyWYVlHQDxx366X1XS2udGgfQ130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP378252.RAGl4YHEV78t2-L_V9t0GyWYVlHQDxx366X1XS2udGgfQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP378252.RAGl4YHEV78t2-L_V9t0GyWYVlHQDxx366X1XS2udGgfQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP378252.RAGl4YHEV78t2-L_V9t0GyWYVlHQDxx366X1XS2udGgfQ130_provenance.
- NP378252.RAGl4YHEV78t2-L_V9t0GyWYVlHQDxx366X1XS2udGgfQ130_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." NP378252.RAGl4YHEV78t2-L_V9t0GyWYVlHQDxx366X1XS2udGgfQ130_provenance.
- NP378252.RAGl4YHEV78t2-L_V9t0GyWYVlHQDxx366X1XS2udGgfQ130_assertion evidence source_evidence_literature NP378252.RAGl4YHEV78t2-L_V9t0GyWYVlHQDxx366X1XS2udGgfQ130_provenance.
- NP378252.RAGl4YHEV78t2-L_V9t0GyWYVlHQDxx366X1XS2udGgfQ130_assertion SIO_000772 22022284 NP378252.RAGl4YHEV78t2-L_V9t0GyWYVlHQDxx366X1XS2udGgfQ130_provenance.
- NP378252.RAGl4YHEV78t2-L_V9t0GyWYVlHQDxx366X1XS2udGgfQ130_assertion wasDerivedFrom befree-20140225 NP378252.RAGl4YHEV78t2-L_V9t0GyWYVlHQDxx366X1XS2udGgfQ130_provenance.
- NP378252.RAGl4YHEV78t2-L_V9t0GyWYVlHQDxx366X1XS2udGgfQ130_assertion wasGeneratedBy ECO_0000203 NP378252.RAGl4YHEV78t2-L_V9t0GyWYVlHQDxx366X1XS2udGgfQ130_provenance.
- befree-20140225 importedOn "2014-02-25" NP378252.RAGl4YHEV78t2-L_V9t0GyWYVlHQDxx366X1XS2udGgfQ130_provenance.