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- source_evidence_literature type ECO_0000212 NP823817.RAD6DEfJ7BOW9HGfoMIH7JbsGCdYl8FovYXC2Ve6xjn8U130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP823817.RAD6DEfJ7BOW9HGfoMIH7JbsGCdYl8FovYXC2Ve6xjn8U130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP823817.RAD6DEfJ7BOW9HGfoMIH7JbsGCdYl8FovYXC2Ve6xjn8U130_provenance.
- NP823817.RAD6DEfJ7BOW9HGfoMIH7JbsGCdYl8FovYXC2Ve6xjn8U130_assertion description "[These findings suggest that pathological aggregation of alpha/beta spectrin heterodimers and abnormal AIS integrity resulting from SPTAN1 mutations were involved in pathogenesis of infantile epilepsy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP823817.RAD6DEfJ7BOW9HGfoMIH7JbsGCdYl8FovYXC2Ve6xjn8U130_provenance.
- NP823817.RAD6DEfJ7BOW9HGfoMIH7JbsGCdYl8FovYXC2Ve6xjn8U130_assertion evidence source_evidence_literature NP823817.RAD6DEfJ7BOW9HGfoMIH7JbsGCdYl8FovYXC2Ve6xjn8U130_provenance.
- NP823817.RAD6DEfJ7BOW9HGfoMIH7JbsGCdYl8FovYXC2Ve6xjn8U130_assertion SIO_000772 20493457 NP823817.RAD6DEfJ7BOW9HGfoMIH7JbsGCdYl8FovYXC2Ve6xjn8U130_provenance.
- NP823817.RAD6DEfJ7BOW9HGfoMIH7JbsGCdYl8FovYXC2Ve6xjn8U130_assertion wasDerivedFrom befree-20140225 NP823817.RAD6DEfJ7BOW9HGfoMIH7JbsGCdYl8FovYXC2Ve6xjn8U130_provenance.
- NP823817.RAD6DEfJ7BOW9HGfoMIH7JbsGCdYl8FovYXC2Ve6xjn8U130_assertion wasGeneratedBy ECO_0000203 NP823817.RAD6DEfJ7BOW9HGfoMIH7JbsGCdYl8FovYXC2Ve6xjn8U130_provenance.
- befree-20140225 importedOn "2014-02-25" NP823817.RAD6DEfJ7BOW9HGfoMIH7JbsGCdYl8FovYXC2Ve6xjn8U130_provenance.