Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP867045.RAZwBZji3MLlggbOmzhruy1_cKMK2XMcUFB1g7efn0ufQ130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP867045.RAZwBZji3MLlggbOmzhruy1_cKMK2XMcUFB1g7efn0ufQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP867045.RAZwBZji3MLlggbOmzhruy1_cKMK2XMcUFB1g7efn0ufQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP867045.RAZwBZji3MLlggbOmzhruy1_cKMK2XMcUFB1g7efn0ufQ130_provenance.
- NP867045.RAZwBZji3MLlggbOmzhruy1_cKMK2XMcUFB1g7efn0ufQ130_assertion description "[We report a patient with Charcot-Marie-Tooth disease (CMT) due to the p.Ile112Thr mutation in myelin protein zero (MPZ) who presented with a patchy neuropathy with conduction block and tonic pupils.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP867045.RAZwBZji3MLlggbOmzhruy1_cKMK2XMcUFB1g7efn0ufQ130_provenance.
- NP867045.RAZwBZji3MLlggbOmzhruy1_cKMK2XMcUFB1g7efn0ufQ130_assertion evidence source_evidence_literature NP867045.RAZwBZji3MLlggbOmzhruy1_cKMK2XMcUFB1g7efn0ufQ130_provenance.
- NP867045.RAZwBZji3MLlggbOmzhruy1_cKMK2XMcUFB1g7efn0ufQ130_assertion SIO_000772 21256749 NP867045.RAZwBZji3MLlggbOmzhruy1_cKMK2XMcUFB1g7efn0ufQ130_provenance.
- NP867045.RAZwBZji3MLlggbOmzhruy1_cKMK2XMcUFB1g7efn0ufQ130_assertion wasDerivedFrom befree-2016 NP867045.RAZwBZji3MLlggbOmzhruy1_cKMK2XMcUFB1g7efn0ufQ130_provenance.
- NP867045.RAZwBZji3MLlggbOmzhruy1_cKMK2XMcUFB1g7efn0ufQ130_assertion wasGeneratedBy ECO_0000203 NP867045.RAZwBZji3MLlggbOmzhruy1_cKMK2XMcUFB1g7efn0ufQ130_provenance.
- befree-2016 importedOn "2016-02-19" NP867045.RAZwBZji3MLlggbOmzhruy1_cKMK2XMcUFB1g7efn0ufQ130_provenance.