Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP308618.RAgHCanoO5qvNxWACzOmHW7Mpj2L8z0Qp9RogZE2eUehQ130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP308618.RAgHCanoO5qvNxWACzOmHW7Mpj2L8z0Qp9RogZE2eUehQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP308618.RAgHCanoO5qvNxWACzOmHW7Mpj2L8z0Qp9RogZE2eUehQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP308618.RAgHCanoO5qvNxWACzOmHW7Mpj2L8z0Qp9RogZE2eUehQ130_provenance.
- NP308618.RAgHCanoO5qvNxWACzOmHW7Mpj2L8z0Qp9RogZE2eUehQ130_assertion description "[Two heterozygous APTX sequence variants (p.L248M and p.D185E) were found in six families with ataxic phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP308618.RAgHCanoO5qvNxWACzOmHW7Mpj2L8z0Qp9RogZE2eUehQ130_provenance.
- NP308618.RAgHCanoO5qvNxWACzOmHW7Mpj2L8z0Qp9RogZE2eUehQ130_assertion evidence source_evidence_literature NP308618.RAgHCanoO5qvNxWACzOmHW7Mpj2L8z0Qp9RogZE2eUehQ130_provenance.
- NP308618.RAgHCanoO5qvNxWACzOmHW7Mpj2L8z0Qp9RogZE2eUehQ130_assertion SIO_000772 21465257 NP308618.RAgHCanoO5qvNxWACzOmHW7Mpj2L8z0Qp9RogZE2eUehQ130_provenance.
- NP308618.RAgHCanoO5qvNxWACzOmHW7Mpj2L8z0Qp9RogZE2eUehQ130_assertion wasDerivedFrom befree-20140225 NP308618.RAgHCanoO5qvNxWACzOmHW7Mpj2L8z0Qp9RogZE2eUehQ130_provenance.
- NP308618.RAgHCanoO5qvNxWACzOmHW7Mpj2L8z0Qp9RogZE2eUehQ130_assertion wasGeneratedBy ECO_0000203 NP308618.RAgHCanoO5qvNxWACzOmHW7Mpj2L8z0Qp9RogZE2eUehQ130_provenance.
- befree-20140225 importedOn "2014-02-25" NP308618.RAgHCanoO5qvNxWACzOmHW7Mpj2L8z0Qp9RogZE2eUehQ130_provenance.