Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP315459.RAyS7CQWrdzbwl-SAxPqI41hO3IBSYpMwTa5HynE3q798130_assertion> ?p ?o ?g. }
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- NP315459.RAyS7CQWrdzbwl-SAxPqI41hO3IBSYpMwTa5HynE3q798130_assertion type Assertion NP315459.RAyS7CQWrdzbwl-SAxPqI41hO3IBSYpMwTa5HynE3q798130_head.
- 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.