Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP498802.RAPqzw2j7fZP77ozW3u_q1OhDbv7QTWaYJeX7zKYL7UYM130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP498802.RAPqzw2j7fZP77ozW3u_q1OhDbv7QTWaYJeX7zKYL7UYM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP498802.RAPqzw2j7fZP77ozW3u_q1OhDbv7QTWaYJeX7zKYL7UYM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP498802.RAPqzw2j7fZP77ozW3u_q1OhDbv7QTWaYJeX7zKYL7UYM130_provenance.
- NP498802.RAPqzw2j7fZP77ozW3u_q1OhDbv7QTWaYJeX7zKYL7UYM130_assertion description "[Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-Marie-Tooth disease family.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP498802.RAPqzw2j7fZP77ozW3u_q1OhDbv7QTWaYJeX7zKYL7UYM130_provenance.
- NP498802.RAPqzw2j7fZP77ozW3u_q1OhDbv7QTWaYJeX7zKYL7UYM130_assertion evidence source_evidence_literature NP498802.RAPqzw2j7fZP77ozW3u_q1OhDbv7QTWaYJeX7zKYL7UYM130_provenance.
- NP498802.RAPqzw2j7fZP77ozW3u_q1OhDbv7QTWaYJeX7zKYL7UYM130_assertion SIO_000772 15947997 NP498802.RAPqzw2j7fZP77ozW3u_q1OhDbv7QTWaYJeX7zKYL7UYM130_provenance.
- NP498802.RAPqzw2j7fZP77ozW3u_q1OhDbv7QTWaYJeX7zKYL7UYM130_assertion wasDerivedFrom befree-2016 NP498802.RAPqzw2j7fZP77ozW3u_q1OhDbv7QTWaYJeX7zKYL7UYM130_provenance.
- NP498802.RAPqzw2j7fZP77ozW3u_q1OhDbv7QTWaYJeX7zKYL7UYM130_assertion wasGeneratedBy ECO_0000203 NP498802.RAPqzw2j7fZP77ozW3u_q1OhDbv7QTWaYJeX7zKYL7UYM130_provenance.
- befree-2016 importedOn "2016-02-19" NP498802.RAPqzw2j7fZP77ozW3u_q1OhDbv7QTWaYJeX7zKYL7UYM130_provenance.