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- NP540760.RAtc-wZwjiKncyBNBlzQqGnPd7vwSVZua1Sg-r7KepQRg130_assertion type Assertion NP540760.RAtc-wZwjiKncyBNBlzQqGnPd7vwSVZua1Sg-r7KepQRg130_head.
- NP540760.RAtc-wZwjiKncyBNBlzQqGnPd7vwSVZua1Sg-r7KepQRg130_assertion wasGeneratedBy ECO_0000203 NP540760.RAtc-wZwjiKncyBNBlzQqGnPd7vwSVZua1Sg-r7KepQRg130_provenance.
- NP540760.RAtc-wZwjiKncyBNBlzQqGnPd7vwSVZua1Sg-r7KepQRg130_assertion wasDerivedFrom befree-2016 NP540760.RAtc-wZwjiKncyBNBlzQqGnPd7vwSVZua1Sg-r7KepQRg130_provenance.
- NP540760.RAtc-wZwjiKncyBNBlzQqGnPd7vwSVZua1Sg-r7KepQRg130_assertion SIO_000772 16543359 NP540760.RAtc-wZwjiKncyBNBlzQqGnPd7vwSVZua1Sg-r7KepQRg130_provenance.
- NP540760.RAtc-wZwjiKncyBNBlzQqGnPd7vwSVZua1Sg-r7KepQRg130_assertion evidence source_evidence_literature NP540760.RAtc-wZwjiKncyBNBlzQqGnPd7vwSVZua1Sg-r7KepQRg130_provenance.
- NP540760.RAtc-wZwjiKncyBNBlzQqGnPd7vwSVZua1Sg-r7KepQRg130_assertion description "[A previously unreported case with severe bilateral microphthalmia and oesophageal atresia has a de novo missense mutation, R74P, that alters a highly evolutionarily conserved residue within the high mobility group domain, which is critical for DNA-binding of SOX2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP540760.RAtc-wZwjiKncyBNBlzQqGnPd7vwSVZua1Sg-r7KepQRg130_provenance.