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- source_evidence_literature type ECO_0000212 NP1069335.RA-nj1uX6TzXLvJ80ghOAkmF_68buZXYaXaB3IQd34nlQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1069335.RA-nj1uX6TzXLvJ80ghOAkmF_68buZXYaXaB3IQd34nlQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1069335.RA-nj1uX6TzXLvJ80ghOAkmF_68buZXYaXaB3IQd34nlQ130_provenance.
- NP1069335.RA-nj1uX6TzXLvJ80ghOAkmF_68buZXYaXaB3IQd34nlQ130_assertion description "[(2) SCN1A testing should be considered in people with possible DS where the typical initial presentation is of a developmentally normal infant presenting with recurrent, febrile or afebrile prolonged, hemiclonic seizures or generalized status epilepticus.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1069335.RA-nj1uX6TzXLvJ80ghOAkmF_68buZXYaXaB3IQd34nlQ130_provenance.
- NP1069335.RA-nj1uX6TzXLvJ80ghOAkmF_68buZXYaXaB3IQd34nlQ130_assertion evidence source_evidence_literature NP1069335.RA-nj1uX6TzXLvJ80ghOAkmF_68buZXYaXaB3IQd34nlQ130_provenance.
- NP1069335.RA-nj1uX6TzXLvJ80ghOAkmF_68buZXYaXaB3IQd34nlQ130_assertion SIO_000772 23586701 NP1069335.RA-nj1uX6TzXLvJ80ghOAkmF_68buZXYaXaB3IQd34nlQ130_provenance.
- NP1069335.RA-nj1uX6TzXLvJ80ghOAkmF_68buZXYaXaB3IQd34nlQ130_assertion wasDerivedFrom befree-2016 NP1069335.RA-nj1uX6TzXLvJ80ghOAkmF_68buZXYaXaB3IQd34nlQ130_provenance.
- NP1069335.RA-nj1uX6TzXLvJ80ghOAkmF_68buZXYaXaB3IQd34nlQ130_assertion wasGeneratedBy ECO_0000203 NP1069335.RA-nj1uX6TzXLvJ80ghOAkmF_68buZXYaXaB3IQd34nlQ130_provenance.
- befree-2016 importedOn "2016-02-19" NP1069335.RA-nj1uX6TzXLvJ80ghOAkmF_68buZXYaXaB3IQd34nlQ130_provenance.