Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1096656.RA4vU5hh22r4kWyJI_2PGKhRp2u7AFUfsgJhG8FPC1kA4130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1096656.RA4vU5hh22r4kWyJI_2PGKhRp2u7AFUfsgJhG8FPC1kA4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1096656.RA4vU5hh22r4kWyJI_2PGKhRp2u7AFUfsgJhG8FPC1kA4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1096656.RA4vU5hh22r4kWyJI_2PGKhRp2u7AFUfsgJhG8FPC1kA4130_provenance.
- NP1096656.RA4vU5hh22r4kWyJI_2PGKhRp2u7AFUfsgJhG8FPC1kA4130_assertion description "[Biallelic disease-causing variants were identified in four Japanese patients with CDSRR suggesting that the pathognomonic electrophysiological features are helpful in making a molecular diagnosis of KCNV2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1096656.RA4vU5hh22r4kWyJI_2PGKhRp2u7AFUfsgJhG8FPC1kA4130_provenance.
- NP1096656.RA4vU5hh22r4kWyJI_2PGKhRp2u7AFUfsgJhG8FPC1kA4130_assertion evidence source_evidence_literature NP1096656.RA4vU5hh22r4kWyJI_2PGKhRp2u7AFUfsgJhG8FPC1kA4130_provenance.
- NP1096656.RA4vU5hh22r4kWyJI_2PGKhRp2u7AFUfsgJhG8FPC1kA4130_assertion SIO_000772 23885164 NP1096656.RA4vU5hh22r4kWyJI_2PGKhRp2u7AFUfsgJhG8FPC1kA4130_provenance.
- NP1096656.RA4vU5hh22r4kWyJI_2PGKhRp2u7AFUfsgJhG8FPC1kA4130_assertion wasDerivedFrom befree-2016 NP1096656.RA4vU5hh22r4kWyJI_2PGKhRp2u7AFUfsgJhG8FPC1kA4130_provenance.
- NP1096656.RA4vU5hh22r4kWyJI_2PGKhRp2u7AFUfsgJhG8FPC1kA4130_assertion wasGeneratedBy ECO_0000203 NP1096656.RA4vU5hh22r4kWyJI_2PGKhRp2u7AFUfsgJhG8FPC1kA4130_provenance.
- befree-2016 importedOn "2016-02-19" NP1096656.RA4vU5hh22r4kWyJI_2PGKhRp2u7AFUfsgJhG8FPC1kA4130_provenance.