Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP259121.RAK0LAoqH5EDKxnOWVlIh3YI1XNNXz8VsaV6tts4qxG80130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP259121.RAK0LAoqH5EDKxnOWVlIh3YI1XNNXz8VsaV6tts4qxG80130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP259121.RAK0LAoqH5EDKxnOWVlIh3YI1XNNXz8VsaV6tts4qxG80130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP259121.RAK0LAoqH5EDKxnOWVlIh3YI1XNNXz8VsaV6tts4qxG80130_provenance.
- befree-2016 importedOn "2016-02-19" NP259121.RAK0LAoqH5EDKxnOWVlIh3YI1XNNXz8VsaV6tts4qxG80130_provenance.
- NP259121.RAK0LAoqH5EDKxnOWVlIh3YI1XNNXz8VsaV6tts4qxG80130_assertion wasGeneratedBy ECO_0000203 NP259121.RAK0LAoqH5EDKxnOWVlIh3YI1XNNXz8VsaV6tts4qxG80130_provenance.
- NP259121.RAK0LAoqH5EDKxnOWVlIh3YI1XNNXz8VsaV6tts4qxG80130_assertion wasDerivedFrom befree-2016 NP259121.RAK0LAoqH5EDKxnOWVlIh3YI1XNNXz8VsaV6tts4qxG80130_provenance.
- NP259121.RAK0LAoqH5EDKxnOWVlIh3YI1XNNXz8VsaV6tts4qxG80130_assertion SIO_000772 10430413 NP259121.RAK0LAoqH5EDKxnOWVlIh3YI1XNNXz8VsaV6tts4qxG80130_provenance.
- NP259121.RAK0LAoqH5EDKxnOWVlIh3YI1XNNXz8VsaV6tts4qxG80130_assertion evidence source_evidence_literature NP259121.RAK0LAoqH5EDKxnOWVlIh3YI1XNNXz8VsaV6tts4qxG80130_provenance.
- NP259121.RAK0LAoqH5EDKxnOWVlIh3YI1XNNXz8VsaV6tts4qxG80130_assertion description "[We compared the phenotype, especially brain imaging studies, in a series of 48 children with lissencephaly, including 12 with Miller-Dieker syndrome (MDS), which is associated with large deletions of LIS1 and other genes in the region, 24 with isolated lissencephaly sequence caused by smaller LIS1 deletions or mutations, and 12 with isolated lissencephaly sequence caused by XLIS mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP259121.RAK0LAoqH5EDKxnOWVlIh3YI1XNNXz8VsaV6tts4qxG80130_provenance.