Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP804921.RAvv9Ivq08UciNDSLYY797e_5FeR-N2ud5K60_qRb2VPs130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP804921.RAvv9Ivq08UciNDSLYY797e_5FeR-N2ud5K60_qRb2VPs130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP804921.RAvv9Ivq08UciNDSLYY797e_5FeR-N2ud5K60_qRb2VPs130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP804921.RAvv9Ivq08UciNDSLYY797e_5FeR-N2ud5K60_qRb2VPs130_provenance.
- NP804921.RAvv9Ivq08UciNDSLYY797e_5FeR-N2ud5K60_qRb2VPs130_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." NP804921.RAvv9Ivq08UciNDSLYY797e_5FeR-N2ud5K60_qRb2VPs130_provenance.
- NP804921.RAvv9Ivq08UciNDSLYY797e_5FeR-N2ud5K60_qRb2VPs130_assertion evidence source_evidence_literature NP804921.RAvv9Ivq08UciNDSLYY797e_5FeR-N2ud5K60_qRb2VPs130_provenance.
- NP804921.RAvv9Ivq08UciNDSLYY797e_5FeR-N2ud5K60_qRb2VPs130_assertion SIO_000772 20376468 NP804921.RAvv9Ivq08UciNDSLYY797e_5FeR-N2ud5K60_qRb2VPs130_provenance.
- NP804921.RAvv9Ivq08UciNDSLYY797e_5FeR-N2ud5K60_qRb2VPs130_assertion wasDerivedFrom befree-2016 NP804921.RAvv9Ivq08UciNDSLYY797e_5FeR-N2ud5K60_qRb2VPs130_provenance.
- NP804921.RAvv9Ivq08UciNDSLYY797e_5FeR-N2ud5K60_qRb2VPs130_assertion wasGeneratedBy ECO_0000203 NP804921.RAvv9Ivq08UciNDSLYY797e_5FeR-N2ud5K60_qRb2VPs130_provenance.
- befree-2016 importedOn "2016-02-19" NP804921.RAvv9Ivq08UciNDSLYY797e_5FeR-N2ud5K60_qRb2VPs130_provenance.