Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP6393.RAvP_kNGMQ2xAWlXXsO2sUbhwgohpfCS5NuwYLgdI63Ys130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP6393.RAvP_kNGMQ2xAWlXXsO2sUbhwgohpfCS5NuwYLgdI63Ys130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP6393.RAvP_kNGMQ2xAWlXXsO2sUbhwgohpfCS5NuwYLgdI63Ys130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP6393.RAvP_kNGMQ2xAWlXXsO2sUbhwgohpfCS5NuwYLgdI63Ys130_provenance.
- NP6393.RAvP_kNGMQ2xAWlXXsO2sUbhwgohpfCS5NuwYLgdI63Ys130_assertion description "[A novel homozygous Arg222Trp missense mutation in WNT7A in two sisters with severe Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6393.RAvP_kNGMQ2xAWlXXsO2sUbhwgohpfCS5NuwYLgdI63Ys130_provenance.
- NP6393.RAvP_kNGMQ2xAWlXXsO2sUbhwgohpfCS5NuwYLgdI63Ys130_assertion evidence source_evidence_curated NP6393.RAvP_kNGMQ2xAWlXXsO2sUbhwgohpfCS5NuwYLgdI63Ys130_provenance.
- NP6393.RAvP_kNGMQ2xAWlXXsO2sUbhwgohpfCS5NuwYLgdI63Ys130_assertion SIO_000772 20949531 NP6393.RAvP_kNGMQ2xAWlXXsO2sUbhwgohpfCS5NuwYLgdI63Ys130_provenance.
- NP6393.RAvP_kNGMQ2xAWlXXsO2sUbhwgohpfCS5NuwYLgdI63Ys130_assertion wasDerivedFrom uniprot-2016 NP6393.RAvP_kNGMQ2xAWlXXsO2sUbhwgohpfCS5NuwYLgdI63Ys130_provenance.
- NP6393.RAvP_kNGMQ2xAWlXXsO2sUbhwgohpfCS5NuwYLgdI63Ys130_assertion wasGeneratedBy ECO_0000218 NP6393.RAvP_kNGMQ2xAWlXXsO2sUbhwgohpfCS5NuwYLgdI63Ys130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP6393.RAvP_kNGMQ2xAWlXXsO2sUbhwgohpfCS5NuwYLgdI63Ys130_provenance.