Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP572285.RAQLpLW4jZct9Iz40u9W3TxzgKv0F2466M82A3S9Z2mWA130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP572285.RAQLpLW4jZct9Iz40u9W3TxzgKv0F2466M82A3S9Z2mWA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP572285.RAQLpLW4jZct9Iz40u9W3TxzgKv0F2466M82A3S9Z2mWA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP572285.RAQLpLW4jZct9Iz40u9W3TxzgKv0F2466M82A3S9Z2mWA130_provenance.
- NP572285.RAQLpLW4jZct9Iz40u9W3TxzgKv0F2466M82A3S9Z2mWA130_assertion description "[Due to their highly differentiated, malformative nature and glioneuronal phenotype, FCD(IIb) share neuropathological characteristics with lesions observed in familial disorders such as cortical tubers present in patients with autosomal dominant tuberous sclerosis complex (TSC), related to mutations in the TSC1 or TSC2 genes, and dysplastic gangliocytomas of the cerebellum found in Cowden disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP572285.RAQLpLW4jZct9Iz40u9W3TxzgKv0F2466M82A3S9Z2mWA130_provenance.
- NP572285.RAQLpLW4jZct9Iz40u9W3TxzgKv0F2466M82A3S9Z2mWA130_assertion evidence source_evidence_literature NP572285.RAQLpLW4jZct9Iz40u9W3TxzgKv0F2466M82A3S9Z2mWA130_provenance.
- NP572285.RAQLpLW4jZct9Iz40u9W3TxzgKv0F2466M82A3S9Z2mWA130_assertion SIO_000772 17013611 NP572285.RAQLpLW4jZct9Iz40u9W3TxzgKv0F2466M82A3S9Z2mWA130_provenance.
- NP572285.RAQLpLW4jZct9Iz40u9W3TxzgKv0F2466M82A3S9Z2mWA130_assertion wasDerivedFrom befree-2016 NP572285.RAQLpLW4jZct9Iz40u9W3TxzgKv0F2466M82A3S9Z2mWA130_provenance.
- NP572285.RAQLpLW4jZct9Iz40u9W3TxzgKv0F2466M82A3S9Z2mWA130_assertion wasGeneratedBy ECO_0000203 NP572285.RAQLpLW4jZct9Iz40u9W3TxzgKv0F2466M82A3S9Z2mWA130_provenance.
- befree-2016 importedOn "2016-02-19" NP572285.RAQLpLW4jZct9Iz40u9W3TxzgKv0F2466M82A3S9Z2mWA130_provenance.