Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP208705.RAuXR1k0xek0-_lQurFMY40FOG0vdryD-RXfRp8GHdH9M130_assertion> ?p ?o ?g. }
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- NP208705.RAuXR1k0xek0-_lQurFMY40FOG0vdryD-RXfRp8GHdH9M130_assertion type Assertion NP208705.RAuXR1k0xek0-_lQurFMY40FOG0vdryD-RXfRp8GHdH9M130_head.
- NP208705.RAuXR1k0xek0-_lQurFMY40FOG0vdryD-RXfRp8GHdH9M130_assertion wasGeneratedBy ECO_0000203 NP208705.RAuXR1k0xek0-_lQurFMY40FOG0vdryD-RXfRp8GHdH9M130_provenance.
- NP208705.RAuXR1k0xek0-_lQurFMY40FOG0vdryD-RXfRp8GHdH9M130_assertion wasDerivedFrom lhgdn-20090331 NP208705.RAuXR1k0xek0-_lQurFMY40FOG0vdryD-RXfRp8GHdH9M130_provenance.
- NP208705.RAuXR1k0xek0-_lQurFMY40FOG0vdryD-RXfRp8GHdH9M130_assertion SIO_000772 12610651 NP208705.RAuXR1k0xek0-_lQurFMY40FOG0vdryD-RXfRp8GHdH9M130_provenance.
- NP208705.RAuXR1k0xek0-_lQurFMY40FOG0vdryD-RXfRp8GHdH9M130_assertion evidence source_evidence_literature NP208705.RAuXR1k0xek0-_lQurFMY40FOG0vdryD-RXfRp8GHdH9M130_provenance.
- NP208705.RAuXR1k0xek0-_lQurFMY40FOG0vdryD-RXfRp8GHdH9M130_assertion description "[R542Q in SCN1A was observed in one autism family and had previously been identified in a patient with juvenile myoclonic epilepsy]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP208705.RAuXR1k0xek0-_lQurFMY40FOG0vdryD-RXfRp8GHdH9M130_provenance.