Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP804921.RAvv9Ivq08UciNDSLYY797e_5FeR-N2ud5K60_qRb2VPs130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP804921.RAvv9Ivq08UciNDSLYY797e_5FeR-N2ud5K60_qRb2VPs130_assertion type Assertion NP804921.RAvv9Ivq08UciNDSLYY797e_5FeR-N2ud5K60_qRb2VPs130_head.
- 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.