Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP961432.RA8PV212E61x28NpGc0zKxxLS6zwG5rijNqSXBIrtLvGY130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP961432.RA8PV212E61x28NpGc0zKxxLS6zwG5rijNqSXBIrtLvGY130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP961432.RA8PV212E61x28NpGc0zKxxLS6zwG5rijNqSXBIrtLvGY130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP961432.RA8PV212E61x28NpGc0zKxxLS6zwG5rijNqSXBIrtLvGY130_provenance.
- NP961432.RA8PV212E61x28NpGc0zKxxLS6zwG5rijNqSXBIrtLvGY130_assertion description "[We identified a missense change in LOXHD1, a gene causing progressive hearing loss in humans, as the sole variant capable of explaining the phenotype in this pedigree.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP961432.RA8PV212E61x28NpGc0zKxxLS6zwG5rijNqSXBIrtLvGY130_provenance.
- NP961432.RA8PV212E61x28NpGc0zKxxLS6zwG5rijNqSXBIrtLvGY130_assertion evidence source_evidence_literature NP961432.RA8PV212E61x28NpGc0zKxxLS6zwG5rijNqSXBIrtLvGY130_provenance.
- NP961432.RA8PV212E61x28NpGc0zKxxLS6zwG5rijNqSXBIrtLvGY130_assertion SIO_000772 22341973 NP961432.RA8PV212E61x28NpGc0zKxxLS6zwG5rijNqSXBIrtLvGY130_provenance.
- NP961432.RA8PV212E61x28NpGc0zKxxLS6zwG5rijNqSXBIrtLvGY130_assertion wasDerivedFrom befree-2016 NP961432.RA8PV212E61x28NpGc0zKxxLS6zwG5rijNqSXBIrtLvGY130_provenance.
- NP961432.RA8PV212E61x28NpGc0zKxxLS6zwG5rijNqSXBIrtLvGY130_assertion wasGeneratedBy ECO_0000203 NP961432.RA8PV212E61x28NpGc0zKxxLS6zwG5rijNqSXBIrtLvGY130_provenance.
- befree-2016 importedOn "2016-02-19" NP961432.RA8PV212E61x28NpGc0zKxxLS6zwG5rijNqSXBIrtLvGY130_provenance.