Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP4912.RALjJEJzwc_500V3BY6voegmvECdnrHxC0Hu3WfcmywRI130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP4912.RALjJEJzwc_500V3BY6voegmvECdnrHxC0Hu3WfcmywRI130_assertion type Assertion NP4912.RALjJEJzwc_500V3BY6voegmvECdnrHxC0Hu3WfcmywRI130_head.
- NP4912.RALjJEJzwc_500V3BY6voegmvECdnrHxC0Hu3WfcmywRI130_assertion description "[The relationship between severe myoclonic epilepsy of infancy (SMEI or Dravet syndrome) and the related syndrome SMEI-borderland (SMEB) with mutations in the sodium channel alpha 1 subunit gene SCN1A is well established.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4912.RALjJEJzwc_500V3BY6voegmvECdnrHxC0Hu3WfcmywRI130_provenance.
- NP4912.RALjJEJzwc_500V3BY6voegmvECdnrHxC0Hu3WfcmywRI130_assertion evidence source_evidence_curated NP4912.RALjJEJzwc_500V3BY6voegmvECdnrHxC0Hu3WfcmywRI130_provenance.
- NP4912.RALjJEJzwc_500V3BY6voegmvECdnrHxC0Hu3WfcmywRI130_assertion SIO_000772 17347258 NP4912.RALjJEJzwc_500V3BY6voegmvECdnrHxC0Hu3WfcmywRI130_provenance.
- NP4912.RALjJEJzwc_500V3BY6voegmvECdnrHxC0Hu3WfcmywRI130_assertion wasDerivedFrom uniprot-2016 NP4912.RALjJEJzwc_500V3BY6voegmvECdnrHxC0Hu3WfcmywRI130_provenance.
- NP4912.RALjJEJzwc_500V3BY6voegmvECdnrHxC0Hu3WfcmywRI130_assertion wasGeneratedBy ECO_0000218 NP4912.RALjJEJzwc_500V3BY6voegmvECdnrHxC0Hu3WfcmywRI130_provenance.