Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP547626.RAOy5yQyjQLVclbLWF4B4UHutJajxa12iCUENqrd7c1eE130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP547626.RAOy5yQyjQLVclbLWF4B4UHutJajxa12iCUENqrd7c1eE130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP547626.RAOy5yQyjQLVclbLWF4B4UHutJajxa12iCUENqrd7c1eE130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP547626.RAOy5yQyjQLVclbLWF4B4UHutJajxa12iCUENqrd7c1eE130_provenance.
- NP547626.RAOy5yQyjQLVclbLWF4B4UHutJajxa12iCUENqrd7c1eE130_assertion description "[Sequencing of the entire GJB2 gene-coding region in Czech patients with pre-lingual bilateral hearing loss revealed that 10.3% of Czech patients carry only one monoallelic pathogenic mutation in the coding region of the GJB2 gene, which is significantly more than the population frequency of 3.4%.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP547626.RAOy5yQyjQLVclbLWF4B4UHutJajxa12iCUENqrd7c1eE130_provenance.
- NP547626.RAOy5yQyjQLVclbLWF4B4UHutJajxa12iCUENqrd7c1eE130_assertion evidence source_evidence_literature NP547626.RAOy5yQyjQLVclbLWF4B4UHutJajxa12iCUENqrd7c1eE130_provenance.
- NP547626.RAOy5yQyjQLVclbLWF4B4UHutJajxa12iCUENqrd7c1eE130_assertion SIO_000772 16650079 NP547626.RAOy5yQyjQLVclbLWF4B4UHutJajxa12iCUENqrd7c1eE130_provenance.
- NP547626.RAOy5yQyjQLVclbLWF4B4UHutJajxa12iCUENqrd7c1eE130_assertion wasDerivedFrom befree-2016 NP547626.RAOy5yQyjQLVclbLWF4B4UHutJajxa12iCUENqrd7c1eE130_provenance.
- NP547626.RAOy5yQyjQLVclbLWF4B4UHutJajxa12iCUENqrd7c1eE130_assertion wasGeneratedBy ECO_0000203 NP547626.RAOy5yQyjQLVclbLWF4B4UHutJajxa12iCUENqrd7c1eE130_provenance.
- befree-2016 importedOn "2016-02-19" NP547626.RAOy5yQyjQLVclbLWF4B4UHutJajxa12iCUENqrd7c1eE130_provenance.