Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP304403.RATBrf3hpaAE71QmBh_lWJjZ6i0Xx8dzn4i1FYH2cKxM0130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP304403.RATBrf3hpaAE71QmBh_lWJjZ6i0Xx8dzn4i1FYH2cKxM0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP304403.RATBrf3hpaAE71QmBh_lWJjZ6i0Xx8dzn4i1FYH2cKxM0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP304403.RATBrf3hpaAE71QmBh_lWJjZ6i0Xx8dzn4i1FYH2cKxM0130_provenance.
- NP304403.RATBrf3hpaAE71QmBh_lWJjZ6i0Xx8dzn4i1FYH2cKxM0130_assertion description "[We recently identified mutations in either GJB3 or GJB4 genes, encoding respectively connexin 31 (Cx31) or 30.3 (Cx30.3), as causally involved in erythrokeratodermia variabilis (EKV), a mostly autosomal dominant disorder of keratinization.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP304403.RATBrf3hpaAE71QmBh_lWJjZ6i0Xx8dzn4i1FYH2cKxM0130_provenance.
- NP304403.RATBrf3hpaAE71QmBh_lWJjZ6i0Xx8dzn4i1FYH2cKxM0130_assertion evidence source_evidence_literature NP304403.RATBrf3hpaAE71QmBh_lWJjZ6i0Xx8dzn4i1FYH2cKxM0130_provenance.
- NP304403.RATBrf3hpaAE71QmBh_lWJjZ6i0Xx8dzn4i1FYH2cKxM0130_assertion SIO_000772 14583444 NP304403.RATBrf3hpaAE71QmBh_lWJjZ6i0Xx8dzn4i1FYH2cKxM0130_provenance.
- NP304403.RATBrf3hpaAE71QmBh_lWJjZ6i0Xx8dzn4i1FYH2cKxM0130_assertion wasDerivedFrom befree-20140225 NP304403.RATBrf3hpaAE71QmBh_lWJjZ6i0Xx8dzn4i1FYH2cKxM0130_provenance.
- NP304403.RATBrf3hpaAE71QmBh_lWJjZ6i0Xx8dzn4i1FYH2cKxM0130_assertion wasGeneratedBy ECO_0000203 NP304403.RATBrf3hpaAE71QmBh_lWJjZ6i0Xx8dzn4i1FYH2cKxM0130_provenance.
- befree-20140225 importedOn "2014-02-25" NP304403.RATBrf3hpaAE71QmBh_lWJjZ6i0Xx8dzn4i1FYH2cKxM0130_provenance.