Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP580485.RAl-ZcDfJyOD8fItJLiB0M6q1zfH46rv58rl-F7oz6sIE130_assertion> ?p ?o ?g. }
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- NP580485.RAl-ZcDfJyOD8fItJLiB0M6q1zfH46rv58rl-F7oz6sIE130_assertion type Assertion NP580485.RAl-ZcDfJyOD8fItJLiB0M6q1zfH46rv58rl-F7oz6sIE130_head.
- NP580485.RAl-ZcDfJyOD8fItJLiB0M6q1zfH46rv58rl-F7oz6sIE130_assertion description "[Here we demonstrate that about 20% of cases of LKS, CSWSS and electroclinically atypical rolandic epilepsy often associated with speech impairment can have a genetic origin sustained by de novo or inherited mutations in the GRIN2A gene (encoding the N-methyl-D-aspartate (NMDA) glutamate receptor ?2 subunit, GluN2A).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP580485.RAl-ZcDfJyOD8fItJLiB0M6q1zfH46rv58rl-F7oz6sIE130_provenance.
- NP580485.RAl-ZcDfJyOD8fItJLiB0M6q1zfH46rv58rl-F7oz6sIE130_assertion evidence source_evidence_literature NP580485.RAl-ZcDfJyOD8fItJLiB0M6q1zfH46rv58rl-F7oz6sIE130_provenance.
- NP580485.RAl-ZcDfJyOD8fItJLiB0M6q1zfH46rv58rl-F7oz6sIE130_assertion SIO_000772 23933820 NP580485.RAl-ZcDfJyOD8fItJLiB0M6q1zfH46rv58rl-F7oz6sIE130_provenance.
- NP580485.RAl-ZcDfJyOD8fItJLiB0M6q1zfH46rv58rl-F7oz6sIE130_assertion wasDerivedFrom befree-20140225 NP580485.RAl-ZcDfJyOD8fItJLiB0M6q1zfH46rv58rl-F7oz6sIE130_provenance.
- NP580485.RAl-ZcDfJyOD8fItJLiB0M6q1zfH46rv58rl-F7oz6sIE130_assertion wasGeneratedBy ECO_0000203 NP580485.RAl-ZcDfJyOD8fItJLiB0M6q1zfH46rv58rl-F7oz6sIE130_provenance.