Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP646368.RAx_OdcJJdKVJlQr-vdQfzMp5kAACI9ZfH0h6Y3Cl59wE130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP646368.RAx_OdcJJdKVJlQr-vdQfzMp5kAACI9ZfH0h6Y3Cl59wE130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP646368.RAx_OdcJJdKVJlQr-vdQfzMp5kAACI9ZfH0h6Y3Cl59wE130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP646368.RAx_OdcJJdKVJlQr-vdQfzMp5kAACI9ZfH0h6Y3Cl59wE130_provenance.
- NP646368.RAx_OdcJJdKVJlQr-vdQfzMp5kAACI9ZfH0h6Y3Cl59wE130_assertion description "[Two patients affected by severe dRTA with early onset SNHL showed the same mutation in the ATP6V1B1 gene and bilateral EVA with a different degree of severity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP646368.RAx_OdcJJdKVJlQr-vdQfzMp5kAACI9ZfH0h6Y3Cl59wE130_provenance.
- NP646368.RAx_OdcJJdKVJlQr-vdQfzMp5kAACI9ZfH0h6Y3Cl59wE130_assertion evidence source_evidence_literature NP646368.RAx_OdcJJdKVJlQr-vdQfzMp5kAACI9ZfH0h6Y3Cl59wE130_provenance.
- NP646368.RAx_OdcJJdKVJlQr-vdQfzMp5kAACI9ZfH0h6Y3Cl59wE130_assertion SIO_000772 19639346 NP646368.RAx_OdcJJdKVJlQr-vdQfzMp5kAACI9ZfH0h6Y3Cl59wE130_provenance.
- NP646368.RAx_OdcJJdKVJlQr-vdQfzMp5kAACI9ZfH0h6Y3Cl59wE130_assertion wasDerivedFrom befree-20140225 NP646368.RAx_OdcJJdKVJlQr-vdQfzMp5kAACI9ZfH0h6Y3Cl59wE130_provenance.
- NP646368.RAx_OdcJJdKVJlQr-vdQfzMp5kAACI9ZfH0h6Y3Cl59wE130_assertion wasGeneratedBy ECO_0000203 NP646368.RAx_OdcJJdKVJlQr-vdQfzMp5kAACI9ZfH0h6Y3Cl59wE130_provenance.
- befree-20140225 importedOn "2014-02-25" NP646368.RAx_OdcJJdKVJlQr-vdQfzMp5kAACI9ZfH0h6Y3Cl59wE130_provenance.