Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP315459.RAyS7CQWrdzbwl-SAxPqI41hO3IBSYpMwTa5HynE3q798130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP315459.RAyS7CQWrdzbwl-SAxPqI41hO3IBSYpMwTa5HynE3q798130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP315459.RAyS7CQWrdzbwl-SAxPqI41hO3IBSYpMwTa5HynE3q798130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP315459.RAyS7CQWrdzbwl-SAxPqI41hO3IBSYpMwTa5HynE3q798130_provenance.
- befree-20150227 importedOn "2015-02-27" NP315459.RAyS7CQWrdzbwl-SAxPqI41hO3IBSYpMwTa5HynE3q798130_provenance.
- NP315459.RAyS7CQWrdzbwl-SAxPqI41hO3IBSYpMwTa5HynE3q798130_assertion wasGeneratedBy ECO_0000203 NP315459.RAyS7CQWrdzbwl-SAxPqI41hO3IBSYpMwTa5HynE3q798130_provenance.
- NP315459.RAyS7CQWrdzbwl-SAxPqI41hO3IBSYpMwTa5HynE3q798130_assertion wasDerivedFrom befree-20150227 NP315459.RAyS7CQWrdzbwl-SAxPqI41hO3IBSYpMwTa5HynE3q798130_provenance.
- NP315459.RAyS7CQWrdzbwl-SAxPqI41hO3IBSYpMwTa5HynE3q798130_assertion SIO_000772 18310267 NP315459.RAyS7CQWrdzbwl-SAxPqI41hO3IBSYpMwTa5HynE3q798130_provenance.
- NP315459.RAyS7CQWrdzbwl-SAxPqI41hO3IBSYpMwTa5HynE3q798130_assertion evidence source_evidence_literature NP315459.RAyS7CQWrdzbwl-SAxPqI41hO3IBSYpMwTa5HynE3q798130_provenance.
- NP315459.RAyS7CQWrdzbwl-SAxPqI41hO3IBSYpMwTa5HynE3q798130_assertion description "[Our case provides clear evidence that loss-of-function alleles in both alleles of both CLCNKA and CLCNKB results in a phenotype indistinguishable from that of mutations in BSND (type IV BS).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP315459.RAyS7CQWrdzbwl-SAxPqI41hO3IBSYpMwTa5HynE3q798130_provenance.