Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP925048.RAJSbdeZa3fNbtZRKX9Qmwq6tC_KRAVpqjw_cPpX5JImE130_assertion> ?p ?o ?g. }
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- NP925048.RAJSbdeZa3fNbtZRKX9Qmwq6tC_KRAVpqjw_cPpX5JImE130_assertion type Assertion NP925048.RAJSbdeZa3fNbtZRKX9Qmwq6tC_KRAVpqjw_cPpX5JImE130_head.
- NP925048.RAJSbdeZa3fNbtZRKX9Qmwq6tC_KRAVpqjw_cPpX5JImE130_assertion description "[We report an infant presenting with afebrile seizures secondary to hyperinsulinemic hypoglycemia resulting from a novel de novo mutation of the GLUD1 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP925048.RAJSbdeZa3fNbtZRKX9Qmwq6tC_KRAVpqjw_cPpX5JImE130_provenance.
- NP925048.RAJSbdeZa3fNbtZRKX9Qmwq6tC_KRAVpqjw_cPpX5JImE130_assertion evidence source_evidence_literature NP925048.RAJSbdeZa3fNbtZRKX9Qmwq6tC_KRAVpqjw_cPpX5JImE130_provenance.
- NP925048.RAJSbdeZa3fNbtZRKX9Qmwq6tC_KRAVpqjw_cPpX5JImE130_assertion SIO_000772 21932603 NP925048.RAJSbdeZa3fNbtZRKX9Qmwq6tC_KRAVpqjw_cPpX5JImE130_provenance.
- NP925048.RAJSbdeZa3fNbtZRKX9Qmwq6tC_KRAVpqjw_cPpX5JImE130_assertion wasDerivedFrom befree-2016 NP925048.RAJSbdeZa3fNbtZRKX9Qmwq6tC_KRAVpqjw_cPpX5JImE130_provenance.
- NP925048.RAJSbdeZa3fNbtZRKX9Qmwq6tC_KRAVpqjw_cPpX5JImE130_assertion wasGeneratedBy ECO_0000203 NP925048.RAJSbdeZa3fNbtZRKX9Qmwq6tC_KRAVpqjw_cPpX5JImE130_provenance.