Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1116299.RAeGBLxBmIMQ6_9W6x3e_clfr-LIh0ynJ0sgc5xSPPdpw130_assertion> ?p ?o ?g. }
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- NP1116299.RAeGBLxBmIMQ6_9W6x3e_clfr-LIh0ynJ0sgc5xSPPdpw130_assertion type Assertion NP1116299.RAeGBLxBmIMQ6_9W6x3e_clfr-LIh0ynJ0sgc5xSPPdpw130_head.
- NP1116299.RAeGBLxBmIMQ6_9W6x3e_clfr-LIh0ynJ0sgc5xSPPdpw130_assertion description "[STXBP1 (MUNC18.1), encoding syntaxin binding protein 1, has been reported in Ohtahara syndrome, a rare epileptic encephalopathy with suppression burst pattern on EEG, in patients with infantile spasms and in a few patients with nonsyndromic mental retardation without epilepsy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1116299.RAeGBLxBmIMQ6_9W6x3e_clfr-LIh0ynJ0sgc5xSPPdpw130_provenance.
- NP1116299.RAeGBLxBmIMQ6_9W6x3e_clfr-LIh0ynJ0sgc5xSPPdpw130_assertion evidence source_evidence_literature NP1116299.RAeGBLxBmIMQ6_9W6x3e_clfr-LIh0ynJ0sgc5xSPPdpw130_provenance.
- NP1116299.RAeGBLxBmIMQ6_9W6x3e_clfr-LIh0ynJ0sgc5xSPPdpw130_assertion SIO_000772 24095819 NP1116299.RAeGBLxBmIMQ6_9W6x3e_clfr-LIh0ynJ0sgc5xSPPdpw130_provenance.
- NP1116299.RAeGBLxBmIMQ6_9W6x3e_clfr-LIh0ynJ0sgc5xSPPdpw130_assertion wasDerivedFrom befree-2016 NP1116299.RAeGBLxBmIMQ6_9W6x3e_clfr-LIh0ynJ0sgc5xSPPdpw130_provenance.
- NP1116299.RAeGBLxBmIMQ6_9W6x3e_clfr-LIh0ynJ0sgc5xSPPdpw130_assertion wasGeneratedBy ECO_0000203 NP1116299.RAeGBLxBmIMQ6_9W6x3e_clfr-LIh0ynJ0sgc5xSPPdpw130_provenance.