Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP523557.RA1RlT_0Uu317B4dwGHaII_VqNrU98GxM3S4UAY0AR468130_assertion> ?p ?o ?g. }
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- NP523557.RA1RlT_0Uu317B4dwGHaII_VqNrU98GxM3S4UAY0AR468130_assertion type Assertion NP523557.RA1RlT_0Uu317B4dwGHaII_VqNrU98GxM3S4UAY0AR468130_head.
- NP523557.RA1RlT_0Uu317B4dwGHaII_VqNrU98GxM3S4UAY0AR468130_assertion description "[De novo mutations in SCN1A in sporadic Dravet syndrome and germline mutations in SCN1A, SCN1B, and SCN2A in generalized epilepsies with febrile seizures plus have unraveled the heterogenous myoclonic epilepsies of infancy and early childhood.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP523557.RA1RlT_0Uu317B4dwGHaII_VqNrU98GxM3S4UAY0AR468130_provenance.
- NP523557.RA1RlT_0Uu317B4dwGHaII_VqNrU98GxM3S4UAY0AR468130_assertion evidence source_evidence_literature NP523557.RA1RlT_0Uu317B4dwGHaII_VqNrU98GxM3S4UAY0AR468130_provenance.
- NP523557.RA1RlT_0Uu317B4dwGHaII_VqNrU98GxM3S4UAY0AR468130_assertion SIO_000772 16302874 NP523557.RA1RlT_0Uu317B4dwGHaII_VqNrU98GxM3S4UAY0AR468130_provenance.
- NP523557.RA1RlT_0Uu317B4dwGHaII_VqNrU98GxM3S4UAY0AR468130_assertion wasDerivedFrom befree-2016 NP523557.RA1RlT_0Uu317B4dwGHaII_VqNrU98GxM3S4UAY0AR468130_provenance.
- NP523557.RA1RlT_0Uu317B4dwGHaII_VqNrU98GxM3S4UAY0AR468130_assertion wasGeneratedBy ECO_0000203 NP523557.RA1RlT_0Uu317B4dwGHaII_VqNrU98GxM3S4UAY0AR468130_provenance.