Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1294718.RAsIf7BSYuBRuuDouC4zrD1x09py4JTe_R0DifMJf5V90130_assertion> ?p ?o ?g. }
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- NP1294718.RAsIf7BSYuBRuuDouC4zrD1x09py4JTe_R0DifMJf5V90130_assertion type Assertion NP1294718.RAsIf7BSYuBRuuDouC4zrD1x09py4JTe_R0DifMJf5V90130_head.
- NP1294718.RAsIf7BSYuBRuuDouC4zrD1x09py4JTe_R0DifMJf5V90130_assertion description "[De novo mutations of the gene sodium channel 1? (SCN1A) are the major cause of Dravet syndrome, an infantile epileptic encephalopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1294718.RAsIf7BSYuBRuuDouC4zrD1x09py4JTe_R0DifMJf5V90130_provenance.
- NP1294718.RAsIf7BSYuBRuuDouC4zrD1x09py4JTe_R0DifMJf5V90130_assertion evidence source_evidence_literature NP1294718.RAsIf7BSYuBRuuDouC4zrD1x09py4JTe_R0DifMJf5V90130_provenance.
- NP1294718.RAsIf7BSYuBRuuDouC4zrD1x09py4JTe_R0DifMJf5V90130_assertion SIO_000772 26438699 NP1294718.RAsIf7BSYuBRuuDouC4zrD1x09py4JTe_R0DifMJf5V90130_provenance.
- NP1294718.RAsIf7BSYuBRuuDouC4zrD1x09py4JTe_R0DifMJf5V90130_assertion wasDerivedFrom befree-2016 NP1294718.RAsIf7BSYuBRuuDouC4zrD1x09py4JTe_R0DifMJf5V90130_provenance.
- NP1294718.RAsIf7BSYuBRuuDouC4zrD1x09py4JTe_R0DifMJf5V90130_assertion wasGeneratedBy ECO_0000203 NP1294718.RAsIf7BSYuBRuuDouC4zrD1x09py4JTe_R0DifMJf5V90130_provenance.