Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP740711.RABsN3b9b6mP2L8AVZSNAsIGx__UcpHUsF72_XIhAdohU130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP740711.RABsN3b9b6mP2L8AVZSNAsIGx__UcpHUsF72_XIhAdohU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP740711.RABsN3b9b6mP2L8AVZSNAsIGx__UcpHUsF72_XIhAdohU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP740711.RABsN3b9b6mP2L8AVZSNAsIGx__UcpHUsF72_XIhAdohU130_provenance.
- NP740711.RABsN3b9b6mP2L8AVZSNAsIGx__UcpHUsF72_XIhAdohU130_assertion description "[Mutations in the SCN1A gene are found in up to 80% of individuals with severe myoclonic epilepsy of infancy (SMEI), and mutations in KCNQ2 and KCNQ3 were identified in benign familial neonatal convulsions (BFNC) as well as in single families with Rolandic epilepsy (RE) and idiopathic generalized epilepsies (IGE).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP740711.RABsN3b9b6mP2L8AVZSNAsIGx__UcpHUsF72_XIhAdohU130_provenance.
- NP740711.RABsN3b9b6mP2L8AVZSNAsIGx__UcpHUsF72_XIhAdohU130_assertion evidence source_evidence_literature NP740711.RABsN3b9b6mP2L8AVZSNAsIGx__UcpHUsF72_XIhAdohU130_provenance.
- NP740711.RABsN3b9b6mP2L8AVZSNAsIGx__UcpHUsF72_XIhAdohU130_assertion SIO_000772 19464834 NP740711.RABsN3b9b6mP2L8AVZSNAsIGx__UcpHUsF72_XIhAdohU130_provenance.
- NP740711.RABsN3b9b6mP2L8AVZSNAsIGx__UcpHUsF72_XIhAdohU130_assertion wasDerivedFrom befree-2016 NP740711.RABsN3b9b6mP2L8AVZSNAsIGx__UcpHUsF72_XIhAdohU130_provenance.
- NP740711.RABsN3b9b6mP2L8AVZSNAsIGx__UcpHUsF72_XIhAdohU130_assertion wasGeneratedBy ECO_0000203 NP740711.RABsN3b9b6mP2L8AVZSNAsIGx__UcpHUsF72_XIhAdohU130_provenance.
- befree-2016 importedOn "2016-02-19" NP740711.RABsN3b9b6mP2L8AVZSNAsIGx__UcpHUsF72_XIhAdohU130_provenance.