Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP8066.RAR3VUNVAYJ6n6FhEiTqAU3sLWdYW6HZ0PmaqjtSX6EQU130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP8066.RAR3VUNVAYJ6n6FhEiTqAU3sLWdYW6HZ0PmaqjtSX6EQU130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP8066.RAR3VUNVAYJ6n6FhEiTqAU3sLWdYW6HZ0PmaqjtSX6EQU130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP8066.RAR3VUNVAYJ6n6FhEiTqAU3sLWdYW6HZ0PmaqjtSX6EQU130_provenance.
- NP8066.RAR3VUNVAYJ6n6FhEiTqAU3sLWdYW6HZ0PmaqjtSX6EQU130_assertion description "[Compound heterozygosity for a frame shift mutation and a likely pathogenic sequence variant in the planar cell polarity?ciliogenesis gene WDPCP in a girl with polysyndactyly, coarctation of the aorta, and tongue hamartomas.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP8066.RAR3VUNVAYJ6n6FhEiTqAU3sLWdYW6HZ0PmaqjtSX6EQU130_provenance.
- NP8066.RAR3VUNVAYJ6n6FhEiTqAU3sLWdYW6HZ0PmaqjtSX6EQU130_assertion evidence source_evidence_curated NP8066.RAR3VUNVAYJ6n6FhEiTqAU3sLWdYW6HZ0PmaqjtSX6EQU130_provenance.
- NP8066.RAR3VUNVAYJ6n6FhEiTqAU3sLWdYW6HZ0PmaqjtSX6EQU130_assertion SIO_000772 25427950 NP8066.RAR3VUNVAYJ6n6FhEiTqAU3sLWdYW6HZ0PmaqjtSX6EQU130_provenance.
- NP8066.RAR3VUNVAYJ6n6FhEiTqAU3sLWdYW6HZ0PmaqjtSX6EQU130_assertion wasDerivedFrom uniprot-2016 NP8066.RAR3VUNVAYJ6n6FhEiTqAU3sLWdYW6HZ0PmaqjtSX6EQU130_provenance.
- NP8066.RAR3VUNVAYJ6n6FhEiTqAU3sLWdYW6HZ0PmaqjtSX6EQU130_assertion wasGeneratedBy ECO_0000218 NP8066.RAR3VUNVAYJ6n6FhEiTqAU3sLWdYW6HZ0PmaqjtSX6EQU130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP8066.RAR3VUNVAYJ6n6FhEiTqAU3sLWdYW6HZ0PmaqjtSX6EQU130_provenance.