Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP191987.RADQSnck0u2-7SUTLw0-tSIRM3LbAkB_VcmhC6sszHGFY130_assertion> ?p ?o ?g. }
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- NP191987.RADQSnck0u2-7SUTLw0-tSIRM3LbAkB_VcmhC6sszHGFY130_assertion type Assertion NP191987.RADQSnck0u2-7SUTLw0-tSIRM3LbAkB_VcmhC6sszHGFY130_head.
- NP191987.RADQSnck0u2-7SUTLw0-tSIRM3LbAkB_VcmhC6sszHGFY130_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." NP191987.RADQSnck0u2-7SUTLw0-tSIRM3LbAkB_VcmhC6sszHGFY130_provenance.
- NP191987.RADQSnck0u2-7SUTLw0-tSIRM3LbAkB_VcmhC6sszHGFY130_assertion evidence source_evidence_literature NP191987.RADQSnck0u2-7SUTLw0-tSIRM3LbAkB_VcmhC6sszHGFY130_provenance.
- NP191987.RADQSnck0u2-7SUTLw0-tSIRM3LbAkB_VcmhC6sszHGFY130_assertion SIO_000772 16015284 NP191987.RADQSnck0u2-7SUTLw0-tSIRM3LbAkB_VcmhC6sszHGFY130_provenance.
- NP191987.RADQSnck0u2-7SUTLw0-tSIRM3LbAkB_VcmhC6sszHGFY130_assertion wasDerivedFrom lhgdn-20090331 NP191987.RADQSnck0u2-7SUTLw0-tSIRM3LbAkB_VcmhC6sszHGFY130_provenance.
- NP191987.RADQSnck0u2-7SUTLw0-tSIRM3LbAkB_VcmhC6sszHGFY130_assertion wasGeneratedBy ECO_0000203 NP191987.RADQSnck0u2-7SUTLw0-tSIRM3LbAkB_VcmhC6sszHGFY130_provenance.