Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP783619.RAXGj7VeIax-b4eC262jceFyqpruZSEJ58AXFmxg5vEY8130_assertion> ?p ?o ?g. }
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- NP783619.RAXGj7VeIax-b4eC262jceFyqpruZSEJ58AXFmxg5vEY8130_assertion type Assertion NP783619.RAXGj7VeIax-b4eC262jceFyqpruZSEJ58AXFmxg5vEY8130_head.
- NP783619.RAXGj7VeIax-b4eC262jceFyqpruZSEJ58AXFmxg5vEY8130_assertion description "[In this study, we report the identification of the first insertion mutation, p.W102Vfs*7, in the BSND gene of a newborn girl with acute clinical symptoms including early-onset chronic renal failure.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP783619.RAXGj7VeIax-b4eC262jceFyqpruZSEJ58AXFmxg5vEY8130_provenance.
- NP783619.RAXGj7VeIax-b4eC262jceFyqpruZSEJ58AXFmxg5vEY8130_assertion evidence source_evidence_literature NP783619.RAXGj7VeIax-b4eC262jceFyqpruZSEJ58AXFmxg5vEY8130_provenance.
- NP783619.RAXGj7VeIax-b4eC262jceFyqpruZSEJ58AXFmxg5vEY8130_assertion SIO_000772 23110775 NP783619.RAXGj7VeIax-b4eC262jceFyqpruZSEJ58AXFmxg5vEY8130_provenance.
- NP783619.RAXGj7VeIax-b4eC262jceFyqpruZSEJ58AXFmxg5vEY8130_assertion wasDerivedFrom befree-20150227 NP783619.RAXGj7VeIax-b4eC262jceFyqpruZSEJ58AXFmxg5vEY8130_provenance.
- NP783619.RAXGj7VeIax-b4eC262jceFyqpruZSEJ58AXFmxg5vEY8130_assertion wasGeneratedBy ECO_0000203 NP783619.RAXGj7VeIax-b4eC262jceFyqpruZSEJ58AXFmxg5vEY8130_provenance.