Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP433908.RAVx4WwK0e-cBShobOGz8gAZPn3rVYgL7SPxz9kQcThwY130_assertion> ?p ?o ?g. }
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- NP433908.RAVx4WwK0e-cBShobOGz8gAZPn3rVYgL7SPxz9kQcThwY130_assertion type Assertion NP433908.RAVx4WwK0e-cBShobOGz8gAZPn3rVYgL7SPxz9kQcThwY130_head.
- NP433908.RAVx4WwK0e-cBShobOGz8gAZPn3rVYgL7SPxz9kQcThwY130_assertion wasGeneratedBy ECO_0000203 NP433908.RAVx4WwK0e-cBShobOGz8gAZPn3rVYgL7SPxz9kQcThwY130_provenance.
- NP433908.RAVx4WwK0e-cBShobOGz8gAZPn3rVYgL7SPxz9kQcThwY130_assertion wasDerivedFrom befree-20150227 NP433908.RAVx4WwK0e-cBShobOGz8gAZPn3rVYgL7SPxz9kQcThwY130_provenance.
- NP433908.RAVx4WwK0e-cBShobOGz8gAZPn3rVYgL7SPxz9kQcThwY130_assertion SIO_000772 14967154 NP433908.RAVx4WwK0e-cBShobOGz8gAZPn3rVYgL7SPxz9kQcThwY130_provenance.
- NP433908.RAVx4WwK0e-cBShobOGz8gAZPn3rVYgL7SPxz9kQcThwY130_assertion evidence source_evidence_literature NP433908.RAVx4WwK0e-cBShobOGz8gAZPn3rVYgL7SPxz9kQcThwY130_provenance.
- NP433908.RAVx4WwK0e-cBShobOGz8gAZPn3rVYgL7SPxz9kQcThwY130_assertion description "[The hyperinsulinism-hyperammonemia syndrome (HHS) has been shown to result from dominant germ line mutations within the glutamate dehydrogenase gene (GLUD1, OMIM *138130).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP433908.RAVx4WwK0e-cBShobOGz8gAZPn3rVYgL7SPxz9kQcThwY130_provenance.