Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP30047.RAclwVfLSvvo8fxJj7dKD2M5G8ekjsNz8ukg7auG4dXDc130_assertion> ?p ?o ?g. }
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- NP30047.RAclwVfLSvvo8fxJj7dKD2M5G8ekjsNz8ukg7auG4dXDc130_assertion type Assertion NP30047.RAclwVfLSvvo8fxJj7dKD2M5G8ekjsNz8ukg7auG4dXDc130_head.
- NP30047.RAclwVfLSvvo8fxJj7dKD2M5G8ekjsNz8ukg7auG4dXDc130_assertion description "[Fifteen children presenting with infantile seizures, acquired microcephaly, and developmental delay were found to have novel heterozygous mutations in the GLUT1 (SLC2A1).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP30047.RAclwVfLSvvo8fxJj7dKD2M5G8ekjsNz8ukg7auG4dXDc130_provenance.
- NP30047.RAclwVfLSvvo8fxJj7dKD2M5G8ekjsNz8ukg7auG4dXDc130_assertion evidence source_evidence_curated NP30047.RAclwVfLSvvo8fxJj7dKD2M5G8ekjsNz8ukg7auG4dXDc130_provenance.
- NP30047.RAclwVfLSvvo8fxJj7dKD2M5G8ekjsNz8ukg7auG4dXDc130_assertion SIO_000772 10980529 NP30047.RAclwVfLSvvo8fxJj7dKD2M5G8ekjsNz8ukg7auG4dXDc130_provenance.
- NP30047.RAclwVfLSvvo8fxJj7dKD2M5G8ekjsNz8ukg7auG4dXDc130_assertion wasDerivedFrom ctd_human-20150221 NP30047.RAclwVfLSvvo8fxJj7dKD2M5G8ekjsNz8ukg7auG4dXDc130_provenance.
- NP30047.RAclwVfLSvvo8fxJj7dKD2M5G8ekjsNz8ukg7auG4dXDc130_assertion wasGeneratedBy ECO_0000218 NP30047.RAclwVfLSvvo8fxJj7dKD2M5G8ekjsNz8ukg7auG4dXDc130_provenance.