Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP692559.RA4YIWF57IdEtMpuFC3nNrBi9A4zFtQMuq9KXStvRDXwc130_assertion> ?p ?o ?g. }
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- NP692559.RA4YIWF57IdEtMpuFC3nNrBi9A4zFtQMuq9KXStvRDXwc130_assertion type Assertion NP692559.RA4YIWF57IdEtMpuFC3nNrBi9A4zFtQMuq9KXStvRDXwc130_head.
- NP692559.RA4YIWF57IdEtMpuFC3nNrBi9A4zFtQMuq9KXStvRDXwc130_assertion description "[A novel missense mutation in the PHOX2B gene is associated with late onset central hypoventilation syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP692559.RA4YIWF57IdEtMpuFC3nNrBi9A4zFtQMuq9KXStvRDXwc130_provenance.
- NP692559.RA4YIWF57IdEtMpuFC3nNrBi9A4zFtQMuq9KXStvRDXwc130_assertion evidence source_evidence_literature NP692559.RA4YIWF57IdEtMpuFC3nNrBi9A4zFtQMuq9KXStvRDXwc130_provenance.
- NP692559.RA4YIWF57IdEtMpuFC3nNrBi9A4zFtQMuq9KXStvRDXwc130_assertion SIO_000772 18785257 NP692559.RA4YIWF57IdEtMpuFC3nNrBi9A4zFtQMuq9KXStvRDXwc130_provenance.
- NP692559.RA4YIWF57IdEtMpuFC3nNrBi9A4zFtQMuq9KXStvRDXwc130_assertion wasDerivedFrom befree-2016 NP692559.RA4YIWF57IdEtMpuFC3nNrBi9A4zFtQMuq9KXStvRDXwc130_provenance.
- NP692559.RA4YIWF57IdEtMpuFC3nNrBi9A4zFtQMuq9KXStvRDXwc130_assertion wasGeneratedBy ECO_0000203 NP692559.RA4YIWF57IdEtMpuFC3nNrBi9A4zFtQMuq9KXStvRDXwc130_provenance.