Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1086049.RASJBa5msUsXYY-IpZnVv-VllVWYLsWHFKD0S99IMpX5U130_assertion> ?p ?o ?g. }
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- NP1086049.RASJBa5msUsXYY-IpZnVv-VllVWYLsWHFKD0S99IMpX5U130_assertion type Assertion NP1086049.RASJBa5msUsXYY-IpZnVv-VllVWYLsWHFKD0S99IMpX5U130_head.
- NP1086049.RASJBa5msUsXYY-IpZnVv-VllVWYLsWHFKD0S99IMpX5U130_assertion description "[This case indicates that the phenotypic spectrum of infantile seizures or epilepsy with PRRT2-related pathology may be larger than previously expected, and that genetic investigation of the effect of PRRT2 mutations on idiopathic seizures or epilepsy in childhood may help elucidate the pathological backgrounds of benign childhood epilepsy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1086049.RASJBa5msUsXYY-IpZnVv-VllVWYLsWHFKD0S99IMpX5U130_provenance.
- NP1086049.RASJBa5msUsXYY-IpZnVv-VllVWYLsWHFKD0S99IMpX5U130_assertion evidence source_evidence_literature NP1086049.RASJBa5msUsXYY-IpZnVv-VllVWYLsWHFKD0S99IMpX5U130_provenance.
- NP1086049.RASJBa5msUsXYY-IpZnVv-VllVWYLsWHFKD0S99IMpX5U130_assertion SIO_000772 23768507 NP1086049.RASJBa5msUsXYY-IpZnVv-VllVWYLsWHFKD0S99IMpX5U130_provenance.
- NP1086049.RASJBa5msUsXYY-IpZnVv-VllVWYLsWHFKD0S99IMpX5U130_assertion wasDerivedFrom befree-2016 NP1086049.RASJBa5msUsXYY-IpZnVv-VllVWYLsWHFKD0S99IMpX5U130_provenance.
- NP1086049.RASJBa5msUsXYY-IpZnVv-VllVWYLsWHFKD0S99IMpX5U130_assertion wasGeneratedBy ECO_0000203 NP1086049.RASJBa5msUsXYY-IpZnVv-VllVWYLsWHFKD0S99IMpX5U130_provenance.