Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP200022.RADcjuhIFt0s3GTqOm0t7ndm8sR7zukKKcT3mxf-lwUKM130_assertion> ?p ?o ?g. }
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- NP200022.RADcjuhIFt0s3GTqOm0t7ndm8sR7zukKKcT3mxf-lwUKM130_assertion type Assertion NP200022.RADcjuhIFt0s3GTqOm0t7ndm8sR7zukKKcT3mxf-lwUKM130_head.
- NP200022.RADcjuhIFt0s3GTqOm0t7ndm8sR7zukKKcT3mxf-lwUKM130_assertion description "[novel pathogenic CDKL5 mutations were identified in three girls, two of whom had initially been diagnosed with the early onset seizure variant of Rett Syndrome (RTT) and the other with early onset seizures and some features of RTT]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP200022.RADcjuhIFt0s3GTqOm0t7ndm8sR7zukKKcT3mxf-lwUKM130_provenance.
- NP200022.RADcjuhIFt0s3GTqOm0t7ndm8sR7zukKKcT3mxf-lwUKM130_assertion evidence source_evidence_literature NP200022.RADcjuhIFt0s3GTqOm0t7ndm8sR7zukKKcT3mxf-lwUKM130_provenance.
- NP200022.RADcjuhIFt0s3GTqOm0t7ndm8sR7zukKKcT3mxf-lwUKM130_assertion SIO_000772 16015284 NP200022.RADcjuhIFt0s3GTqOm0t7ndm8sR7zukKKcT3mxf-lwUKM130_provenance.
- NP200022.RADcjuhIFt0s3GTqOm0t7ndm8sR7zukKKcT3mxf-lwUKM130_assertion wasDerivedFrom lhgdn-20090331 NP200022.RADcjuhIFt0s3GTqOm0t7ndm8sR7zukKKcT3mxf-lwUKM130_provenance.
- NP200022.RADcjuhIFt0s3GTqOm0t7ndm8sR7zukKKcT3mxf-lwUKM130_assertion wasGeneratedBy ECO_0000203 NP200022.RADcjuhIFt0s3GTqOm0t7ndm8sR7zukKKcT3mxf-lwUKM130_provenance.