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- source_evidence_literature type ECO_0000212 NP783619.RAXGj7VeIax-b4eC262jceFyqpruZSEJ58AXFmxg5vEY8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP783619.RAXGj7VeIax-b4eC262jceFyqpruZSEJ58AXFmxg5vEY8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP783619.RAXGj7VeIax-b4eC262jceFyqpruZSEJ58AXFmxg5vEY8130_provenance.
- 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.
- befree-20150227 importedOn "2015-02-27" NP783619.RAXGj7VeIax-b4eC262jceFyqpruZSEJ58AXFmxg5vEY8130_provenance.