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- source_evidence_literature type ECO_0000212 NP658086.RAlWbgthnM5U8dYExlY4TikdaL3R_g5ELDCs6cupCyrwo130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP658086.RAlWbgthnM5U8dYExlY4TikdaL3R_g5ELDCs6cupCyrwo130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP658086.RAlWbgthnM5U8dYExlY4TikdaL3R_g5ELDCs6cupCyrwo130_provenance.
- NP658086.RAlWbgthnM5U8dYExlY4TikdaL3R_g5ELDCs6cupCyrwo130_assertion description "[BS with sensorineural deafness (SND, OMIM602522) is a newly identified phenotype caused by mutations in the BSND gene that encodes barttin, a beta-subunit for chloride channel ClC-Ka and ClC-Kb and classified as type IV BS.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP658086.RAlWbgthnM5U8dYExlY4TikdaL3R_g5ELDCs6cupCyrwo130_provenance.
- NP658086.RAlWbgthnM5U8dYExlY4TikdaL3R_g5ELDCs6cupCyrwo130_assertion evidence source_evidence_literature NP658086.RAlWbgthnM5U8dYExlY4TikdaL3R_g5ELDCs6cupCyrwo130_provenance.
- NP658086.RAlWbgthnM5U8dYExlY4TikdaL3R_g5ELDCs6cupCyrwo130_assertion SIO_000772 18310267 NP658086.RAlWbgthnM5U8dYExlY4TikdaL3R_g5ELDCs6cupCyrwo130_provenance.
- NP658086.RAlWbgthnM5U8dYExlY4TikdaL3R_g5ELDCs6cupCyrwo130_assertion wasDerivedFrom befree-2016 NP658086.RAlWbgthnM5U8dYExlY4TikdaL3R_g5ELDCs6cupCyrwo130_provenance.
- NP658086.RAlWbgthnM5U8dYExlY4TikdaL3R_g5ELDCs6cupCyrwo130_assertion wasGeneratedBy ECO_0000203 NP658086.RAlWbgthnM5U8dYExlY4TikdaL3R_g5ELDCs6cupCyrwo130_provenance.
- befree-2016 importedOn "2016-02-19" NP658086.RAlWbgthnM5U8dYExlY4TikdaL3R_g5ELDCs6cupCyrwo130_provenance.