Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP784105.RAZZlQs8eh_ZWJ7ksb-fixeA2uU985eRTtxzG3PhaTRtw130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP784105.RAZZlQs8eh_ZWJ7ksb-fixeA2uU985eRTtxzG3PhaTRtw130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP784105.RAZZlQs8eh_ZWJ7ksb-fixeA2uU985eRTtxzG3PhaTRtw130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP784105.RAZZlQs8eh_ZWJ7ksb-fixeA2uU985eRTtxzG3PhaTRtw130_provenance.
- NP784105.RAZZlQs8eh_ZWJ7ksb-fixeA2uU985eRTtxzG3PhaTRtw130_assertion description "[We report here the cerebral lesions in a 36 weeks' gestation female foetus with a novel de novo missense mutation in the TUBA1A gene, presenting the most severe antenatal phenotype reported so far.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP784105.RAZZlQs8eh_ZWJ7ksb-fixeA2uU985eRTtxzG3PhaTRtw130_provenance.
- NP784105.RAZZlQs8eh_ZWJ7ksb-fixeA2uU985eRTtxzG3PhaTRtw130_assertion evidence source_evidence_literature NP784105.RAZZlQs8eh_ZWJ7ksb-fixeA2uU985eRTtxzG3PhaTRtw130_provenance.
- NP784105.RAZZlQs8eh_ZWJ7ksb-fixeA2uU985eRTtxzG3PhaTRtw130_assertion SIO_000772 20376468 NP784105.RAZZlQs8eh_ZWJ7ksb-fixeA2uU985eRTtxzG3PhaTRtw130_provenance.
- NP784105.RAZZlQs8eh_ZWJ7ksb-fixeA2uU985eRTtxzG3PhaTRtw130_assertion wasDerivedFrom befree-20150227 NP784105.RAZZlQs8eh_ZWJ7ksb-fixeA2uU985eRTtxzG3PhaTRtw130_provenance.
- NP784105.RAZZlQs8eh_ZWJ7ksb-fixeA2uU985eRTtxzG3PhaTRtw130_assertion wasGeneratedBy ECO_0000203 NP784105.RAZZlQs8eh_ZWJ7ksb-fixeA2uU985eRTtxzG3PhaTRtw130_provenance.
- befree-20150227 importedOn "2015-02-27" NP784105.RAZZlQs8eh_ZWJ7ksb-fixeA2uU985eRTtxzG3PhaTRtw130_provenance.