Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP729972.RAPo8kkZxSIOLZ4Hogh731i33v5RV22AXgT8-VPVGCJhg130_assertion> ?p ?o ?g. }
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- NP729972.RAPo8kkZxSIOLZ4Hogh731i33v5RV22AXgT8-VPVGCJhg130_assertion type Assertion NP729972.RAPo8kkZxSIOLZ4Hogh731i33v5RV22AXgT8-VPVGCJhg130_head.
- NP729972.RAPo8kkZxSIOLZ4Hogh731i33v5RV22AXgT8-VPVGCJhg130_assertion description "[A novel inherited mutation in the voltage sensor region of SCN1A is associated with Panayiotopoulos syndrome in siblings and generalized epilepsy with febrile seizures plus.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP729972.RAPo8kkZxSIOLZ4Hogh731i33v5RV22AXgT8-VPVGCJhg130_provenance.
- NP729972.RAPo8kkZxSIOLZ4Hogh731i33v5RV22AXgT8-VPVGCJhg130_assertion evidence source_evidence_literature NP729972.RAPo8kkZxSIOLZ4Hogh731i33v5RV22AXgT8-VPVGCJhg130_provenance.
- NP729972.RAPo8kkZxSIOLZ4Hogh731i33v5RV22AXgT8-VPVGCJhg130_assertion SIO_000772 19339291 NP729972.RAPo8kkZxSIOLZ4Hogh731i33v5RV22AXgT8-VPVGCJhg130_provenance.
- NP729972.RAPo8kkZxSIOLZ4Hogh731i33v5RV22AXgT8-VPVGCJhg130_assertion wasDerivedFrom befree-2016 NP729972.RAPo8kkZxSIOLZ4Hogh731i33v5RV22AXgT8-VPVGCJhg130_provenance.
- NP729972.RAPo8kkZxSIOLZ4Hogh731i33v5RV22AXgT8-VPVGCJhg130_assertion wasGeneratedBy ECO_0000203 NP729972.RAPo8kkZxSIOLZ4Hogh731i33v5RV22AXgT8-VPVGCJhg130_provenance.